#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	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_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
A4GALT	53947	genome.wustl.edu	37	22	43089737	43089737	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:43089737G>T	ENST00000401850.1	-	2	710	c.221C>A	c.(220-222)cCc>cAc	p.P74H	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Missense_Mutation_p.P74H|A4GALT_ENST00000249005.2_Missense_Mutation_p.P74H			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	74					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCCTGGAGTGGGGCCGTGGGA	0.617																																																	0													30.0	32.0	31.0					22																	43089737		2203	4300	6503	SO:0001583	missense	0				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.221C>A	22.37:g.43089737G>T	ENSP00000384794:p.Pro74His		B2R7C4|Q9P1X5	Missense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.P74H	ENST00000401850.1	37	c.221	CCDS14041.1	22	.	.	.	.	.	.	.	.	.	.	g	10.34	1.321946	0.23994	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	D;D;D	0.81579	-1.51;-1.51;-1.51	5.09	4.08	0.47627	.	0.264544	0.25881	U	0.027684	T	0.66107	0.2756	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.55547	-0.8124	10	0.41790	T	0.15	-19.8758	7.7135	0.28692	0.0845:0.0:0.7549:0.1605	.	74	Q9NPC4	A4GAT_HUMAN	H	74	ENSP00000384794:P74H;ENSP00000249005:P74H;ENSP00000370678:P74H	ENSP00000249005:P74H	P	-	2	0	A4GALT	41419681	0.000000	0.05858	0.012000	0.15200	0.003000	0.03518	0.274000	0.18680	1.148000	0.42385	0.556000	0.70494	CCC	A4GALT	-	NULL	ENSG00000128274		0.617	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	A4GALT	HGNC	protein_coding	OTTHUMT00000319917.1	-	0.00	173	0	G	NM_017436		43089737	-1	tier1	-	no_errors	ENST00000249005	ensembl	human	known	74_37	missense	18.11	104	23	SNP	0.014	T
ABCA12	26154	genome.wustl.edu	37	2	215819997	215819997	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:215819997A>T	ENST00000272895.7	-	43	6541	c.6322T>A	c.(6322-6324)Ttt>Att	p.F2108I	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1790I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2108					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATGCCAAAAAACAAGTTGACA	0.413																																					Ovarian(66;664 1488 5121 34295)												0													95.0	84.0	88.0					2																	215819997		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6322T>A	2.37:g.215819997A>T	ENSP00000272895:p.Phe2108Ile		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2108I	ENST00000272895.7	37	c.6322	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169921	0.57584	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.90752	0.7097	L	0.61387	1.9	0.80722	D	1	D;P	0.89917	1.0;0.51	D;B	0.97110	1.0;0.279	D	0.88774	0.3266	10	0.26408	T	0.33	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	2108;1790	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	2108;1790	ENSP00000272895:F2108I;ENSP00000374312:F1790I	ENSP00000272895:F2108I	F	-	1	0	ABCA12	215528242	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.327000	0.79147	2.285000	0.76669	0.528000	0.53228	TTT	ABCA12	-	NULL	ENSG00000144452		0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	74	0	A	NM_173076		215819997	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	14.13	79	13	SNP	1.000	T
ABCA12	26154	genome.wustl.edu	37	2	215819997	215819997	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:215819997A>T	ENST00000272895.7	-	43	6541	c.6322T>A	c.(6322-6324)Ttt>Att	p.F2108I	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1790I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2108					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATGCCAAAAAACAAGTTGACA	0.413																																					Ovarian(66;664 1488 5121 34295)												0													95.0	84.0	88.0					2																	215819997		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6322T>A	2.37:g.215819997A>T	ENSP00000272895:p.Phe2108Ile		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2108I	ENST00000272895.7	37	c.6322	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169921	0.57584	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.90752	0.7097	L	0.61387	1.9	0.80722	D	1	D;P	0.89917	1.0;0.51	D;B	0.97110	1.0;0.279	D	0.88774	0.3266	10	0.26408	T	0.33	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	2108;1790	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	2108;1790	ENSP00000272895:F2108I;ENSP00000374312:F1790I	ENSP00000272895:F2108I	F	-	1	0	ABCA12	215528242	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.327000	0.79147	2.285000	0.76669	0.528000	0.53228	TTT	ABCA12	-	NULL	ENSG00000144452		0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	77	0	A	NM_173076		215819997	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	14.13	79	13	SNP	1.000	T
ABCA6	23460	genome.wustl.edu	37	17	67132213	67132213	+	Intron	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:67132213T>C	ENST00000284425.2	-	4	635				ABCA6_ENST00000590645.1_Missense_Mutation_p.I160M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCATAATGATATTTGATATG	0.338																																																	0													22.0	23.0	23.0					17																	67132213		2201	4291	6492	SO:0001627	intron_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.460+19A>G	17.37:g.67132213T>C			Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	NULL	p.I160M	ENST00000284425.2	37	c.480	CCDS11683.1	17																																																																																			ABCA6	-	NULL	ENSG00000154262		0.338	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	21	0	T	NM_080284		67132213	-1	tier1	-	no_errors	ENST00000590645	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.000	C
ACR	49	genome.wustl.edu	37	22	51183125	51183125	+	Silent	SNP	C	C	T	rs200667515		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:51183125C>T	ENST00000216139.5	+	5	796	c.756C>T	c.(754-756)agC>agT	p.S252S	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	252	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCAAGGAAAGCGCCTATGTGG	0.612																																																	0																																										SO:0001819	synonymous_variant	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.756C>T	22.37:g.51183125C>T			Q6ICK2	Silent	SNP	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.S252	ENST00000216139.5	37	c.756	CCDS14101.1	22																																																																																			ACR	-	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000100312		0.612	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	-	0.00	120	0	C	NM_001097		51183125	+1	tier1	rs200667515	no_errors	ENST00000216139	ensembl	human	known	74_37	silent	7.95	81	7	SNP	0.000	T
ACR	49	genome.wustl.edu	37	22	51183125	51183125	+	Silent	SNP	C	C	T	rs200667515		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:51183125C>T	ENST00000216139.5	+	5	796	c.756C>T	c.(754-756)agC>agT	p.S252S	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	252	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCAAGGAAAGCGCCTATGTGG	0.612																																																	0																																										SO:0001819	synonymous_variant	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.756C>T	22.37:g.51183125C>T			Q6ICK2	Silent	SNP	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.S252	ENST00000216139.5	37	c.756	CCDS14101.1	22																																																																																			ACR	-	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000100312		0.612	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	-	0.00	136	0	C	NM_001097		51183125	+1	tier1	rs200667515	no_errors	ENST00000216139	ensembl	human	known	74_37	silent	7.95	81	7	SNP	0.000	T
ACSM5	54988	genome.wustl.edu	37	16	20429480	20429480	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:20429480G>A	ENST00000331849.4	+	3	451	c.304G>A	c.(304-306)Gca>Aca	p.A102T	ACSM5_ENST00000575584.1_Missense_Mutation_p.A102T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	102					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTCCAGGAAGGCAGCCAATGT	0.627																																																	0													67.0	56.0	60.0					16																	20429480		2203	4300	6503	SO:0001583	missense	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.304G>A	16.37:g.20429480G>A	ENSP00000327916:p.Ala102Thr		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A102T	ENST00000331849.4	37	c.304	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782926	0.49891	.	.	ENSG00000183549	ENST00000331849	T	0.41758	0.99	4.75	3.77	0.43336	AMP-dependent synthetase/ligase (1);	0.097634	0.45126	D	0.000384	T	0.34600	0.0903	L	0.35644	1.08	0.30218	N	0.797104	P	0.35774	0.519	B	0.39805	0.31	T	0.21552	-1.0242	10	0.20519	T	0.43	-18.6101	13.168	0.59581	0.0802:0.0:0.9198:0.0	.	102	Q6NUN0	ACSM5_HUMAN	T	102	ENSP00000327916:A102T	ENSP00000327916:A102T	A	+	1	0	ACSM5	20336981	0.964000	0.33143	1.000000	0.80357	0.724000	0.41520	1.917000	0.39996	2.465000	0.83290	0.655000	0.94253	GCA	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.627	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0.00	107	0	G	NM_017888		20429480	+1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	A
ACSM5	54988	genome.wustl.edu	37	16	20429480	20429480	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:20429480G>A	ENST00000331849.4	+	3	451	c.304G>A	c.(304-306)Gca>Aca	p.A102T	ACSM5_ENST00000575584.1_Missense_Mutation_p.A102T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	102					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTCCAGGAAGGCAGCCAATGT	0.627																																																	0													67.0	56.0	60.0					16																	20429480		2203	4300	6503	SO:0001583	missense	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.304G>A	16.37:g.20429480G>A	ENSP00000327916:p.Ala102Thr		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A102T	ENST00000331849.4	37	c.304	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782926	0.49891	.	.	ENSG00000183549	ENST00000331849	T	0.41758	0.99	4.75	3.77	0.43336	AMP-dependent synthetase/ligase (1);	0.097634	0.45126	D	0.000384	T	0.34600	0.0903	L	0.35644	1.08	0.30218	N	0.797104	P	0.35774	0.519	B	0.39805	0.31	T	0.21552	-1.0242	10	0.20519	T	0.43	-18.6101	13.168	0.59581	0.0802:0.0:0.9198:0.0	.	102	Q6NUN0	ACSM5_HUMAN	T	102	ENSP00000327916:A102T	ENSP00000327916:A102T	A	+	1	0	ACSM5	20336981	0.964000	0.33143	1.000000	0.80357	0.724000	0.41520	1.917000	0.39996	2.465000	0.83290	0.655000	0.94253	GCA	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.627	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0.00	97	0	G	NM_017888		20429480	+1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	5.50	103	6	SNP	1.000	A
ACVRL1	94	genome.wustl.edu	37	12	52306268	52306268	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:52306268G>T	ENST00000388922.4	+	2	293	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G18C|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G18C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	4					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGACCTTGGGCTCCCCCAG	0.582																																																	0													69.0	58.0	61.0					12																	52306268		2203	4300	6503	SO:0001583	missense	0			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.10G>T	12.37:g.52306268G>T	ENSP00000373574:p.Gly4Cys		A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G18C	ENST00000388922.4	37	c.52	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145305	0.37825	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.92545	-2.03;-3.06;-2.07;-2.19	5.28	2.41	0.29592	.	0.590250	0.14171	N	0.336719	T	0.81903	0.4921	N	0.08118	0	0.19300	N	0.999976	P;B	0.36086	0.536;0.39	B;B	0.36418	0.045;0.224	T	0.74665	-0.3589	10	0.72032	D	0.01	.	7.7188	0.28721	0.2673:0.0:0.7327:0.0	.	18;4	E7EN07;P37023	.;ACVL1_HUMAN	C	4;4;18;18;18;18	ENSP00000373574:G4C;ENSP00000446724:G18C;ENSP00000447884:G18C;ENSP00000392492:G18C	ENSP00000267008:G4C	G	+	1	0	ACVRL1	50592535	0.001000	0.12720	0.895000	0.35142	0.534000	0.34807	0.497000	0.22514	0.791000	0.33826	0.655000	0.94253	GGC	ACVRL1	-	NULL	ENSG00000139567		0.582	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2	-	0.00	50	0	G			52306268	+1	tier1	-	no_errors	ENST00000550683	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.620	T
ACYP1	97	genome.wustl.edu	37	14	75520169	75520169	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:75520169G>A	ENST00000238618.3	-	3	381	c.278C>T	c.(277-279)tCa>tTa	p.S93L	ACYP1_ENST00000555463.1_Missense_Mutation_p.S123L|ACYP1_ENST00000555694.1_Missense_Mutation_p.S93L|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000556257.1_5'Flank	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	93	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		TTGGAAGTCTGAGTAATCCAA	0.328																																																	0													158.0	157.0	157.0					14																	75520169		2203	4300	6503	SO:0001583	missense	0			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.278C>T	14.37:g.75520169G>A	ENSP00000238618:p.Ser93Leu		A6NDV8|B2R590	Missense_Mutation	SNP	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase	p.S93L	ENST00000238618.3	37	c.278	CCDS9838.1	14	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692990	0.48202	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.63	3.71	0.42584	Acylphosphatase-like (3);	0.641907	0.14570	N	0.311520	T	0.47116	0.1428	.	.	.	0.23657	N	0.997184	B	0.26318	0.146	B	0.38755	0.281	T	0.48031	-0.9070	8	0.66056	D	0.02	-2.1651	11.4032	0.49883	0.0:0.2458:0.5777:0.1766	.	93	P07311	ACYP1_HUMAN	L	93;123;93	.	ENSP00000238618:S93L	S	-	2	0	ACYP1	74589922	0.029000	0.19370	1.000000	0.80357	0.973000	0.67179	1.500000	0.35682	2.672000	0.90937	0.460000	0.39030	TCA	ACYP1	-	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like	ENSG00000119640		0.328	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACYP1	HGNC	protein_coding	OTTHUMT00000415013.1	-	0.00	56	0	G			75520169	-1	tier1	-	no_errors	ENST00000238618	ensembl	human	known	74_37	missense	10.81	66	8	SNP	0.410	A
ACYP1	97	genome.wustl.edu	37	14	75520169	75520169	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:75520169G>A	ENST00000238618.3	-	3	381	c.278C>T	c.(277-279)tCa>tTa	p.S93L	ACYP1_ENST00000555463.1_Missense_Mutation_p.S123L|ACYP1_ENST00000555694.1_Missense_Mutation_p.S93L|MLH3_ENST00000355774.2_5'Flank|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000556257.1_5'Flank	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	93	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		TTGGAAGTCTGAGTAATCCAA	0.328																																																	0													158.0	157.0	157.0					14																	75520169		2203	4300	6503	SO:0001583	missense	0			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.278C>T	14.37:g.75520169G>A	ENSP00000238618:p.Ser93Leu		A6NDV8|B2R590	Missense_Mutation	SNP	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase	p.S93L	ENST00000238618.3	37	c.278	CCDS9838.1	14	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692990	0.48202	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.63	3.71	0.42584	Acylphosphatase-like (3);	0.641907	0.14570	N	0.311520	T	0.47116	0.1428	.	.	.	0.23657	N	0.997184	B	0.26318	0.146	B	0.38755	0.281	T	0.48031	-0.9070	8	0.66056	D	0.02	-2.1651	11.4032	0.49883	0.0:0.2458:0.5777:0.1766	.	93	P07311	ACYP1_HUMAN	L	93;123;93	.	ENSP00000238618:S93L	S	-	2	0	ACYP1	74589922	0.029000	0.19370	1.000000	0.80357	0.973000	0.67179	1.500000	0.35682	2.672000	0.90937	0.460000	0.39030	TCA	ACYP1	-	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like	ENSG00000119640		0.328	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACYP1	HGNC	protein_coding	OTTHUMT00000415013.1	-	0.00	64	0	G			75520169	-1	tier1	-	no_errors	ENST00000238618	ensembl	human	known	74_37	missense	10.81	66	8	SNP	0.410	A
ADAD1	132612	genome.wustl.edu	37	4	123332394	123332394	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:123332394T>G	ENST00000296513.2	+	9	1051	c.866T>G	c.(865-867)cTt>cGt	p.L289R	ADAD1_ENST00000388724.2_Intron|ADAD1_ENST00000388725.2_Missense_Mutation_p.L271R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	289	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATAGACAACTTCTGCTCTTC	0.284																																																	0													54.0	55.0	55.0					4																	123332394		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.866T>G	4.37:g.123332394T>G	ENSP00000296513:p.Leu289Arg		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L289R	ENST00000296513.2	37	c.866	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865753	0.71949	.	.	ENSG00000164113	ENST00000296513;ENST00000388725	D;D	0.95412	-3.7;-3.7	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	-20.1015	16.0304	0.80574	0.0:0.0:0.0:1.0	.	289	Q96M93	ADAD1_HUMAN	R	289;271	ENSP00000296513:L289R;ENSP00000373377:L271R	ENSP00000296513:L289R	L	+	2	0	ADAD1	123551844	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.846000	0.75399	2.193000	0.70182	0.482000	0.46254	CTT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.284	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0.00	44	0	T	NM_139243		123332394	+1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	G
ADAD1	132612	genome.wustl.edu	37	4	123332394	123332394	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:123332394T>G	ENST00000296513.2	+	9	1051	c.866T>G	c.(865-867)cTt>cGt	p.L289R	ADAD1_ENST00000388724.2_Intron|ADAD1_ENST00000388725.2_Missense_Mutation_p.L271R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	289	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATAGACAACTTCTGCTCTTC	0.284																																																	0													54.0	55.0	55.0					4																	123332394		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.866T>G	4.37:g.123332394T>G	ENSP00000296513:p.Leu289Arg		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L289R	ENST00000296513.2	37	c.866	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865753	0.71949	.	.	ENSG00000164113	ENST00000296513;ENST00000388725	D;D	0.95412	-3.7;-3.7	5.74	5.74	0.90152	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	-20.1015	16.0304	0.80574	0.0:0.0:0.0:1.0	.	289	Q96M93	ADAD1_HUMAN	R	289;271	ENSP00000296513:L289R;ENSP00000373377:L271R	ENSP00000296513:L289R	L	+	2	0	ADAD1	123551844	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.846000	0.75399	2.193000	0.70182	0.482000	0.46254	CTT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.284	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0.00	54	0	T	NM_139243		123332394	+1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	G
ADAD2	161931	genome.wustl.edu	37	16	84230517	84230517	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:84230517C>T	ENST00000315906.5	+	10	1741	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.L645L|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	563	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTCTCTCCTCCTGGACCAGC	0.672																																																	0													11.0	12.0	12.0					16																	84230517		2187	4288	6475	SO:0001819	synonymous_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1689C>T	16.37:g.84230517C>T			B2RCL6|Q8NA94	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L645	ENST00000315906.5	37	c.1935	CCDS45536.1	16																																																																																			ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000140955		0.672	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0.00	144	0	C	NM_139174		84230517	+1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	silent	7.21	103	8	SNP	0.960	T
ADAD2	161931	genome.wustl.edu	37	16	84230517	84230517	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:84230517C>T	ENST00000315906.5	+	10	1741	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.L645L|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	563	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTCTCTCCTCCTGGACCAGC	0.672																																																	0													11.0	12.0	12.0					16																	84230517		2187	4288	6475	SO:0001819	synonymous_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1689C>T	16.37:g.84230517C>T			B2RCL6|Q8NA94	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L645	ENST00000315906.5	37	c.1935	CCDS45536.1	16																																																																																			ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000140955		0.672	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0.00	91	0	C	NM_139174		84230517	+1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	silent	7.21	103	8	SNP	0.960	T
ADAM10	102	genome.wustl.edu	37	15	59041748	59041748	+	5'UTR	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:59041748G>A	ENST00000260408.3	-	0	429				ADAM10_ENST00000402627.1_5'UTR|ADAM10_ENST00000396140.2_5'UTR|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10						cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		cgctgccgctgccgccgccgc	0.682																																																	0													12.0	10.0	11.0					15																	59041748		1998	3870	5868	SO:0001623	5_prime_UTR_variant	0			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.-15C>T	15.37:g.59041748G>A			B4DU28|Q10742|Q92650	RNA	SNP	-	NULL	ENST00000260408.3	37	NULL	CCDS10167.1	15																																																																																			ADAM10	-	-	ENSG00000137845		0.682	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	-	0.00	68	0	G	NM_001110		59041748	-1	tier1	-	no_errors	ENST00000461408	ensembl	human	known	74_37	rna	8.70	40	4	SNP	0.994	A
ADAM7	8756	genome.wustl.edu	37	8	24324312	24324312	+	Splice_Site	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:24324312G>T	ENST00000175238.6	+	6	473	c.390G>T	c.(388-390)agG>agT	p.R130S	ADAM7_ENST00000380789.1_Splice_Site_p.R130S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Splice_Site_p.R130S|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTTCTACAGGGGATTCTTCA	0.378																																																	0													78.0	79.0	79.0					8																	24324312		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.390-1G>T	8.37:g.24324312G>T			A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R130S	ENST00000175238.6	37	c.390	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279801	0.40294	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.06849	3.25;3.25;3.25	5.4	2.54	0.30619	Peptidase M12B, propeptide (1);	0.107308	0.42172	N	0.000757	T	0.10723	0.0262	M	0.68728	2.09	0.80722	D	1	B;B	0.27700	0.17;0.186	B;B	0.35859	0.11;0.212	T	0.09228	-1.0684	9	.	.	.	.	5.2849	0.15696	0.1709:0.0:0.6683:0.1608	.	130;130	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	S	130	ENSP00000393073:R130S;ENSP00000175238:R130S;ENSP00000370166:R130S	.	R	+	3	2	ADAM7	24380202	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	0.221000	0.17680	0.361000	0.24292	0.561000	0.74099	AGG	ADAM7	-	pfam_Peptidase_M12B_N	ENSG00000069206		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	73	0	G	NM_003817	Missense_Mutation	24324312	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
ADAM7	8756	genome.wustl.edu	37	8	24324312	24324312	+	Splice_Site	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:24324312G>T	ENST00000175238.6	+	6	473	c.390G>T	c.(388-390)agG>agT	p.R130S	ADAM7_ENST00000380789.1_Splice_Site_p.R130S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Splice_Site_p.R130S|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTTCTACAGGGGATTCTTCA	0.378																																																	0													78.0	79.0	79.0					8																	24324312		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.390-1G>T	8.37:g.24324312G>T			A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R130S	ENST00000175238.6	37	c.390	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279801	0.40294	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.06849	3.25;3.25;3.25	5.4	2.54	0.30619	Peptidase M12B, propeptide (1);	0.107308	0.42172	N	0.000757	T	0.10723	0.0262	M	0.68728	2.09	0.80722	D	1	B;B	0.27700	0.17;0.186	B;B	0.35859	0.11;0.212	T	0.09228	-1.0684	9	.	.	.	.	5.2849	0.15696	0.1709:0.0:0.6683:0.1608	.	130;130	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	S	130	ENSP00000393073:R130S;ENSP00000175238:R130S;ENSP00000370166:R130S	.	R	+	3	2	ADAM7	24380202	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	0.221000	0.17680	0.361000	0.24292	0.561000	0.74099	AGG	ADAM7	-	pfam_Peptidase_M12B_N	ENSG00000069206		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	90	0	G	NM_003817	Missense_Mutation	24324312	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
ADAM32	203102	genome.wustl.edu	37	8	39114802	39114802	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:39114802T>G	ENST00000379907.4	+	19	2229	c.2102T>G	c.(2101-2103)gTt>gGt	p.V701G	ADAM32_ENST00000519315.1_Missense_Mutation_p.V595G|ADAM32_ENST00000437682.2_Missense_Mutation_p.V602G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	701						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ACCGCAATAGTTTTGGCAAGG	0.403																																																	0													137.0	137.0	137.0					8																	39114802		1826	4082	5908	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2102T>G	8.37:g.39114802T>G	ENSP00000369238:p.Val701Gly		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.V701G	ENST00000379907.4	37	c.2102	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	8.594	0.885209	0.17540	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.89196	-2.48;-2.48;-2.48	4.39	-3.65	0.04502	.	1.764870	0.03949	N	0.288246	D	0.83408	0.5248	L	0.41824	1.3	0.09310	N	1	B;B;B;B	0.20459	0.003;0.045;0.0;0.027	B;B;B;B	0.25506	0.003;0.061;0.0;0.033	T	0.68622	-0.5360	10	0.44086	T	0.13	.	7.1361	0.25529	0.0:0.1727:0.1467:0.6806	.	602;125;595;701	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	G	602;595;701	ENSP00000405978:V602G;ENSP00000429422:V595G;ENSP00000369238:V701G	ENSP00000369238:V701G	V	+	2	0	ADAM32	39233959	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.623000	0.05546	-0.677000	0.05231	-0.242000	0.12053	GTT	ADAM32	-	NULL	ENSG00000197140		0.403	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0.00	50	0	T	NM_145004		39114802	+1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.000	G
ADAMTS2	9509	genome.wustl.edu	37	5	178540957	178540957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:178540957G>A	ENST00000251582.7	-	22	3648	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1183					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCTCGGTCGTCGAGGGATT	0.468																																																	0													178.0	177.0	177.0					5																	178540957		2203	4300	6503	SO:0001587	stop_gained	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3547C>T	5.37:g.178540957G>A	ENSP00000251582:p.Arg1183*			Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1183*	ENST00000251582.7	37	c.3547	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.782205	0.98486	.	.	ENSG00000087116	ENST00000251582	.	.	.	5.05	4.08	0.47627	.	0.000000	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0369	0.53431	0.0:0.0:0.7227:0.2773	.	.	.	.	X	1183	.	ENSP00000251582:R1183X	R	-	1	2	ADAMTS2	178473563	0.998000	0.40836	1.000000	0.80357	0.569000	0.35902	2.082000	0.41605	2.308000	0.77769	0.561000	0.74099	CGA	ADAMTS2	-	NULL	ENSG00000087116		0.468	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	119	0	G	NM_014244		178540957	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	nonsense	6.58	70	5	SNP	0.948	A
ADAMTS2	9509	genome.wustl.edu	37	5	178540957	178540957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:178540957G>A	ENST00000251582.7	-	22	3648	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1183					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCTCGGTCGTCGAGGGATT	0.468																																																	0													178.0	177.0	177.0					5																	178540957		2203	4300	6503	SO:0001587	stop_gained	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3547C>T	5.37:g.178540957G>A	ENSP00000251582:p.Arg1183*			Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1183*	ENST00000251582.7	37	c.3547	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.782205	0.98486	.	.	ENSG00000087116	ENST00000251582	.	.	.	5.05	4.08	0.47627	.	0.000000	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0369	0.53431	0.0:0.0:0.7227:0.2773	.	.	.	.	X	1183	.	ENSP00000251582:R1183X	R	-	1	2	ADAMTS2	178473563	0.998000	0.40836	1.000000	0.80357	0.569000	0.35902	2.082000	0.41605	2.308000	0.77769	0.561000	0.74099	CGA	ADAMTS2	-	NULL	ENSG00000087116		0.468	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	71	0	G	NM_014244		178540957	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	nonsense	6.58	70	5	SNP	0.948	A
ADAMTS20	80070	genome.wustl.edu	37	12	43826214	43826214	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:43826214A>G	ENST00000389420.3	-	21	2988	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F997L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.F151L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	997	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGATGGCCAAAGTTATTCATA	0.413																																																	0													119.0	118.0	118.0					12																	43826214		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2989T>C	12.37:g.43826214A>G	ENSP00000374071:p.Phe997Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F997L	ENST00000389420.3	37	c.2989	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	9.249	1.040250	0.19669	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.89	2.52	0.30459	.	0.350050	0.23589	N	0.046566	T	0.24198	0.0586	N	0.01729	-0.75	0.26349	N	0.97723	B;B	0.12013	0.001;0.005	B;B	0.14023	0.006;0.01	T	0.21280	-1.0250	10	0.10377	T	0.69	.	7.6168	0.28163	0.7816:0.1432:0.0752:0.0	.	997;151	P59510;E9PBD5	ATS20_HUMAN;.	L	997;163;151;997;997	ENSP00000374071:F997L;ENSP00000447427:F163L;ENSP00000378911:F151L;ENSP00000448341:F997L	ENSP00000374068:F997L	F	-	1	0	ADAMTS20	42112481	1.000000	0.71417	0.893000	0.35052	0.940000	0.58332	1.974000	0.40559	0.912000	0.36772	0.533000	0.62120	TTT	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0.00	40	0	A	NM_025003		43826214	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	G
ADAMTS20	80070	genome.wustl.edu	37	12	43826214	43826214	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:43826214A>G	ENST00000389420.3	-	21	2988	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F997L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.F151L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	997	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGATGGCCAAAGTTATTCATA	0.413																																																	0													119.0	118.0	118.0					12																	43826214		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2989T>C	12.37:g.43826214A>G	ENSP00000374071:p.Phe997Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F997L	ENST00000389420.3	37	c.2989	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	9.249	1.040250	0.19669	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.89	2.52	0.30459	.	0.350050	0.23589	N	0.046566	T	0.24198	0.0586	N	0.01729	-0.75	0.26349	N	0.97723	B;B	0.12013	0.001;0.005	B;B	0.14023	0.006;0.01	T	0.21280	-1.0250	10	0.10377	T	0.69	.	7.6168	0.28163	0.7816:0.1432:0.0752:0.0	.	997;151	P59510;E9PBD5	ATS20_HUMAN;.	L	997;163;151;997;997	ENSP00000374071:F997L;ENSP00000447427:F163L;ENSP00000378911:F151L;ENSP00000448341:F997L	ENSP00000374068:F997L	F	-	1	0	ADAMTS20	42112481	1.000000	0.71417	0.893000	0.35052	0.940000	0.58332	1.974000	0.40559	0.912000	0.36772	0.533000	0.62120	TTT	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0.00	53	0	A	NM_025003		43826214	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	G
ADCK4	79934	genome.wustl.edu	37	19	41208582	41208582	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:41208582C>G	ENST00000324464.3	-	10	1117	c.816G>C	c.(814-816)caG>caC	p.Q272H	ADCK4_ENST00000450541.1_Missense_Mutation_p.Q231H|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q231H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	272	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGCAGGCTCTGCTCGGCAA	0.637											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	62.0	65.0					19																	41208582		2203	4300	6503	SO:0001583	missense	0			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.816G>C	19.37:g.41208582C>G	ENSP00000315118:p.Gln272His	899	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Q272H	ENST00000324464.3	37	c.816	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227584	0.22542	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.55588	0.51;0.51;0.51	5.27	3.11	0.35812	ABC-1 (1);Protein kinase-like domain (1);	0.157911	0.56097	D	0.000028	T	0.29524	0.0736	N	0.25825	0.765	0.28540	N	0.912152	B;B	0.12630	0.006;0.005	B;B	0.17098	0.017;0.01	T	0.17198	-1.0377	10	0.08179	T	0.78	-24.7916	2.884	0.05656	0.1435:0.5566:0.1395:0.1605	.	272;231	Q96D53;Q96D53-2	ADCK4_HUMAN;.	H	272;231;231	ENSP00000315118:Q272H;ENSP00000412839:Q231H;ENSP00000243583:Q231H	ENSP00000243583:Q231H	Q	-	3	2	ADCK4	45900422	0.982000	0.34865	1.000000	0.80357	0.943000	0.58893	0.471000	0.22100	0.601000	0.29879	0.555000	0.69702	CAG	ADCK4	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000123815		0.637	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0.00	53	0	C	NM_024876		41208582	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.965	G
ADCK4	79934	genome.wustl.edu	37	19	41208582	41208582	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:41208582C>G	ENST00000324464.3	-	10	1117	c.816G>C	c.(814-816)caG>caC	p.Q272H	ADCK4_ENST00000450541.1_Missense_Mutation_p.Q231H|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q231H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	272	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGCAGGCTCTGCTCGGCAA	0.637											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	62.0	65.0					19																	41208582		2203	4300	6503	SO:0001583	missense	0			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.816G>C	19.37:g.41208582C>G	ENSP00000315118:p.Gln272His	899	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Q272H	ENST00000324464.3	37	c.816	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227584	0.22542	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.55588	0.51;0.51;0.51	5.27	3.11	0.35812	ABC-1 (1);Protein kinase-like domain (1);	0.157911	0.56097	D	0.000028	T	0.29524	0.0736	N	0.25825	0.765	0.28540	N	0.912152	B;B	0.12630	0.006;0.005	B;B	0.17098	0.017;0.01	T	0.17198	-1.0377	10	0.08179	T	0.78	-24.7916	2.884	0.05656	0.1435:0.5566:0.1395:0.1605	.	272;231	Q96D53;Q96D53-2	ADCK4_HUMAN;.	H	272;231;231	ENSP00000315118:Q272H;ENSP00000412839:Q231H;ENSP00000243583:Q231H	ENSP00000243583:Q231H	Q	-	3	2	ADCK4	45900422	0.982000	0.34865	1.000000	0.80357	0.943000	0.58893	0.471000	0.22100	0.601000	0.29879	0.555000	0.69702	CAG	ADCK4	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000123815		0.637	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	HGNC	protein_coding	OTTHUMT00000462731.1	-	0.00	89	0	C	NM_024876		41208582	-1	tier1	-	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.965	G
ADRBK2	157	genome.wustl.edu	37	22	26110499	26110499	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:26110499G>T	ENST00000324198.6	+	18	1808	c.1616G>T	c.(1615-1617)aGg>aTg	p.R539M	RNA5SP494_ENST00000410653.1_RNA	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	539					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATCGAGGCCAGGAAGAGAGCT	0.383																																																	0													62.0	59.0	60.0					22																	26110499		2203	4300	6503	SO:0001583	missense	0			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1616G>T	22.37:g.26110499G>T	ENSP00000317578:p.Arg539Met		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R539M	ENST00000324198.6	37	c.1616	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905927	0.92107	.	.	ENSG00000100077	ENST00000324198	T	0.59772	0.24	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	L	0.36672	1.1	0.80722	D	1	P	0.46512	0.879	P	0.48677	0.586	T	0.63404	-0.6645	10	0.87932	D	0	-33.9071	18.6268	0.91342	0.0:0.0:1.0:0.0	.	539	P35626	ARBK2_HUMAN	M	539	ENSP00000317578:R539M	ENSP00000317578:R539M	R	+	2	0	ADRBK2	24440499	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.968000	0.93407	2.715000	0.92844	0.655000	0.94253	AGG	ADRBK2	-	superfamily_Kinase-like_dom	ENSG00000100077		0.383	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4		0.00	30	0	G	NM_005160		26110499	+1			no_errors	ENST00000324198	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
AHDC1	27245	genome.wustl.edu	37	1	27875440	27875440	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:27875440C>T	ENST00000247087.5	-	5	3783	c.3187G>A	c.(3187-3189)Gtc>Atc	p.V1063I	AHDC1_ENST00000374011.2_Missense_Mutation_p.V1063I			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1063							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGGGCGAGACTGTGCTGGCC	0.682																																																	0													10.0	11.0	11.0					1																	27875440		2178	4272	6450	SO:0001583	missense	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3187G>A	1.37:g.27875440C>T	ENSP00000247087:p.Val1063Ile		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.V1063I	ENST00000247087.5	37	c.3187	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202160	0.38905	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.381500	0.21690	N	0.070583	T	0.31482	0.0798	N	0.14661	0.345	0.26697	N	0.97123	P	0.36874	0.572	B	0.33960	0.173	T	0.31166	-0.9953	10	0.49607	T	0.09	-19.6271	13.7301	0.62783	0.1541:0.8459:0.0:0.0	.	1063	Q5TGY3	AHDC1_HUMAN	I	1063	ENSP00000247087:V1063I;ENSP00000363123:V1063I	ENSP00000247087:V1063I	V	-	1	0	AHDC1	27748027	0.992000	0.36948	0.977000	0.42913	0.976000	0.68499	2.856000	0.48341	2.735000	0.93741	0.655000	0.94253	GTC	AHDC1	-	NULL	ENSG00000126705		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0.00	59	0	C			27875440	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.983	T
AHNAK2	113146	genome.wustl.edu	37	14	105418935	105418935	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105418935T>G	ENST00000333244.5	-	7	2972	c.2853A>C	c.(2851-2853)gaA>gaC	p.E951D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	951						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCTGTCACTTCCGCCTTGG	0.612																																																	0													141.0	165.0	157.0					14																	105418935		1941	4123	6064	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2853A>C	14.37:g.105418935T>G	ENSP00000353114:p.Glu951Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E951D	ENST00000333244.5	37	c.2853	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	3.769	-0.048066	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.00557	6.62	2.96	-4.32	0.03688	.	.	.	.	.	T	0.00695	0.0023	L	0.38733	1.17	0.09310	N	1	D	0.59767	0.986	D	0.68621	0.959	T	0.34925	-0.9809	9	0.14656	T	0.56	-2.1782	2.7245	0.05210	0.0965:0.369:0.27:0.2645	.	951	Q8IVF2	AHNK2_HUMAN	D	951	ENSP00000353114:E951D	ENSP00000353114:E951D	E	-	3	2	AHNAK2	104489980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.952000	0.03881	-1.359000	0.02174	-3.649000	0.00026	GAA	AHNAK2	-	NULL	ENSG00000185567		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	244	0	T	NM_138420		105418935	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	6.37	191	13	SNP	0.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105420268	105420268	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105420268C>T	ENST00000333244.5	-	7	1639	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTACTAAGGCGCCTTTCTCT	0.537																																																	0													67.0	72.0	70.0					14																	105420268		1944	4127	6071	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1520G>A	14.37:g.105420268C>T	ENSP00000353114:p.Arg507His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R507H	ENST00000333244.5	37	c.1520	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495692	0.12762	.	.	ENSG00000185567	ENST00000333244	T	0.02787	4.16	3.21	-6.42	0.01932	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47275	-0.9130	9	0.45353	T	0.12	.	6.1307	0.20203	0.0:0.2729:0.2993:0.4278	.	507	Q8IVF2	AHNK2_HUMAN	H	507	ENSP00000353114:R507H	ENSP00000353114:R507H	R	-	2	0	AHNAK2	104491313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.300000	0.00521	-1.977000	0.00994	-0.254000	0.11334	CGC	AHNAK2	-	NULL	ENSG00000185567		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	103	0	C	NM_138420		105420268	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	13.73	88	14	SNP	0.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105420268	105420268	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105420268C>T	ENST00000333244.5	-	7	1639	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTACTAAGGCGCCTTTCTCT	0.537																																																	0													67.0	72.0	70.0					14																	105420268		1944	4127	6071	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1520G>A	14.37:g.105420268C>T	ENSP00000353114:p.Arg507His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R507H	ENST00000333244.5	37	c.1520	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495692	0.12762	.	.	ENSG00000185567	ENST00000333244	T	0.02787	4.16	3.21	-6.42	0.01932	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47275	-0.9130	9	0.45353	T	0.12	.	6.1307	0.20203	0.0:0.2729:0.2993:0.4278	.	507	Q8IVF2	AHNK2_HUMAN	H	507	ENSP00000353114:R507H	ENSP00000353114:R507H	R	-	2	0	AHNAK2	104491313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.300000	0.00521	-1.977000	0.00994	-0.254000	0.11334	CGC	AHNAK2	-	NULL	ENSG00000185567		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	72	0	C	NM_138420		105420268	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	13.73	88	14	SNP	0.000	T
AJAP1	55966	genome.wustl.edu	37	1	4772620	4772620	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:4772620G>A	ENST00000378191.4	+	2	1071	c.690G>A	c.(688-690)acG>acA	p.T230T	AJAP1_ENST00000378190.3_Silent_p.T230T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		cccccaTGACGCTGCAGACTA	0.627																																																	0													40.0	39.0	39.0					1																	4772620		2202	4299	6501	SO:0001819	synonymous_variant	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.690G>A	1.37:g.4772620G>A			Q9Y229	Silent	SNP	NULL	p.T230	ENST00000378191.4	37	c.690	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.627	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0.00	87	0	G	NM_018836		4772620	+1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	silent	19.18	59	14	SNP	0.537	A
AK7	122481	genome.wustl.edu	37	14	96953364	96953364	+	Missense_Mutation	SNP	G	G	A	rs368361362		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:96953364G>A	ENST00000267584.4	+	17	2148	c.2104G>A	c.(2104-2106)Gtc>Atc	p.V702I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	702	DPY-30.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGTTGCAACGTCCGACCCGA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		16967	0.0		0.001	False		,,,				2504	0.0																0								G	ILE/VAL	0,4406		0,0,2203	92.0	89.0	90.0		2104	2.7	0.4	14		90	3,8597	3.0+/-9.4	0,3,4297	no	missense	AK7	NM_152327.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	702/724	96953364	3,13003	2203	4300	6503	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.2104G>A	14.37:g.96953364G>A	ENSP00000267584:p.Val702Ile		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase	p.V702I	ENST00000267584.4	37	c.2104	CCDS9945.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.635|2.635	-0.285554|-0.285554	0.05605|0.05605	0.0|0.0	3.49E-4|3.49E-4	ENSG00000140057|ENSG00000140057	ENST00000554706|ENST00000267584	.|T	.|0.55760	.|0.5	5.45|5.45	2.65|2.65	0.31530|0.31530	.|Dpy-30 motif (1);	.|0.373959	.|0.30101	.|N	.|0.010410	T|T	0.35970|0.35970	0.0950|0.0950	N|N	0.25332|0.25332	0.735|0.735	0.51767|0.51767	D|D	0.999937|0.999937	.|B	.|0.15719	.|0.014	.|B	.|0.18263	.|0.021	T|T	0.07539|0.07539	-1.0767|-1.0767	5|10	.|0.25751	.|T	.|0.34	-21.7269|-21.7269	9.4485|9.4485	0.38712|0.38712	0.3409:0.0:0.6591:0.0|0.3409:0.0:0.6591:0.0	.|.	.|702	.|Q96M32	.|KAD7_HUMAN	H|I	123|702	.|ENSP00000267584:V702I	.|ENSP00000267584:V702I	R|V	+|+	2|1	0|0	AK7|AK7	96023117|96023117	0.999000|0.999000	0.42202|0.42202	0.397000|0.397000	0.26308|0.26308	0.035000|0.035000	0.12851|0.12851	1.049000|1.049000	0.30392|0.30392	0.376000|0.376000	0.24707|0.24707	0.591000|0.591000	0.81541|0.81541	CGT|GTC	AK7	-	pfam_Dpy-30_motif	ENSG00000140057		0.408	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	-	0.00	67	0	G			96953364	+1	tier1	-	no_errors	ENST00000267584	ensembl	human	known	74_37	missense	8.00	92	8	SNP	0.078	A
AK9	221264	genome.wustl.edu	37	6	109867151	109867151	+	Silent	SNP	G	G	A	rs151316525		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:109867151G>A	ENST00000424296.2	-	26	3220	c.3144C>T	c.(3142-3144)aaC>aaT	p.N1048N	AK9_ENST00000355283.1_Silent_p.N127N|AK9_ENST00000341338.6_Silent_p.N127N	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1048	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CAGCTTGCTCGTTCTCAGAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	108.0	105.0	106.0		3144	-10.9	0.1	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	AKD1	NM_001145128.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1048/1912	109867151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3144C>T	6.37:g.109867151G>A			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N1048	ENST00000424296.2	37	c.3144	CCDS55048.1	6																																																																																			AK9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0.00	110	0	G	NM_001145128		109867151	-1	tier1	rs151316525	no_errors	ENST00000424296	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.069	A
AK9	221264	genome.wustl.edu	37	6	109867151	109867151	+	Silent	SNP	G	G	A	rs151316525		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:109867151G>A	ENST00000424296.2	-	26	3220	c.3144C>T	c.(3142-3144)aaC>aaT	p.N1048N	AK9_ENST00000355283.1_Silent_p.N127N|AK9_ENST00000341338.6_Silent_p.N127N	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1048	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CAGCTTGCTCGTTCTCAGAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	108.0	105.0	106.0		3144	-10.9	0.1	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	AKD1	NM_001145128.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1048/1912	109867151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3144C>T	6.37:g.109867151G>A			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N1048	ENST00000424296.2	37	c.3144	CCDS55048.1	6																																																																																			AK9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0.00	91	0	G	NM_001145128		109867151	-1	tier1	rs151316525	no_errors	ENST00000424296	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.069	A
AKT1	207	genome.wustl.edu	37	14	105246426	105246426	+	Splice_Site	SNP	C	C	T	rs560243859	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:105246426C>T	ENST00000554581.1	-	2	1654	c.174G>A	c.(172-174)gcG>gcA	p.A58A	AKT1_ENST00000349310.3_Splice_Site_p.A58A|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Splice_Site_p.A58A|AKT1_ENST00000554848.1_Splice_Site_p.A58A|AKT1_ENST00000407796.2_Splice_Site_p.A58A|AKT1_ENST00000555528.1_Splice_Site_p.A58A			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GATACTTACGCGCCACAGAGA	0.602		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								C|||	3	0.000599042	0.0008	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.002							Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													99.0	93.0	95.0					14																	105246426		2203	4300	6503	SO:0001630	splice_region_variant	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.175+1G>A	14.37:g.105246426C>T			B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.A58	ENST00000554581.1	37	c.174	CCDS9994.1	14																																																																																			AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.602	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1		0.00	103	0	C	NM_005163	Silent	105246426	-1			no_errors	ENST00000349310	ensembl	human	known	74_37	silent	5.19	72	4	SNP	0.432	T
ALDH18A1	5832	genome.wustl.edu	37	10	97386501	97386501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:97386501G>A	ENST00000371224.2	-	10	1248	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.R369*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	371	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCTCCAGATCGCGCCATTTCT	0.443																																																	0													147.0	115.0	126.0					10																	97386501		2203	4300	6503	SO:0001587	stop_gained	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1111C>T	10.37:g.97386501G>A	ENSP00000360268:p.Arg371*		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Nonsense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R371*	ENST00000371224.2	37	c.1111	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.559706	0.98358	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3307	17.9158	0.88950	0.0:0.0:1.0:0.0	.	.	.	.	X	371;369	.	ENSP00000360265:R369X	R	-	1	2	ALDH18A1	97376491	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.135000	0.77276	2.832000	0.97577	0.655000	0.94253	CGA	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.443	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0.00	133	0	G	NM_002860		97386501	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	nonsense	7.69	84	7	SNP	1.000	A
ALDH18A1	5832	genome.wustl.edu	37	10	97386501	97386501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:97386501G>A	ENST00000371224.2	-	10	1248	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.R369*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	371	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCTCCAGATCGCGCCATTTCT	0.443																																																	0													147.0	115.0	126.0					10																	97386501		2203	4300	6503	SO:0001587	stop_gained	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1111C>T	10.37:g.97386501G>A	ENSP00000360268:p.Arg371*		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Nonsense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R371*	ENST00000371224.2	37	c.1111	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.559706	0.98358	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3307	17.9158	0.88950	0.0:0.0:1.0:0.0	.	.	.	.	X	371;369	.	ENSP00000360265:R369X	R	-	1	2	ALDH18A1	97376491	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.135000	0.77276	2.832000	0.97577	0.655000	0.94253	CGA	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.443	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0.00	93	0	G	NM_002860		97386501	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	nonsense	7.69	84	7	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	30142898	30142898	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:30142898C>T	ENST00000389048.3	-	1	1534	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ALK_ENST00000431873.1_Missense_Mutation_p.A210T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	210					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGCTGGGAGGCGCGAATTGCC	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													36.0	44.0	42.0					2																	30142898		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.628G>A	2.37:g.30142898C>T	ENSP00000373700:p.Ala210Thr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A210T	ENST00000389048.3	37	c.628	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114288	0.77210	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.86097	-2.07;2.16	5.23	5.23	0.72850	.	.	.	.	.	D	0.87609	0.6220	L	0.27053	0.805	0.45883	D	0.998733	D	0.89917	1.0	D	0.83275	0.996	D	0.86254	0.1651	8	.	.	.	.	17.7559	0.88449	0.0:1.0:0.0:0.0	.	210	Q9UM73	ALK_HUMAN	T	210	ENSP00000373700:A210T;ENSP00000414027:A210T	.	A	-	1	0	ALK	29996402	1.000000	0.71417	0.990000	0.47175	0.632000	0.37999	6.476000	0.73587	2.596000	0.87737	0.655000	0.94253	GCC	ALK	-	NULL	ENSG00000171094		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0.00	140	0	C	NM_004304		30142898	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	8.27	122	11	SNP	1.000	T
ALK	238	genome.wustl.edu	37	2	30142898	30142898	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:30142898C>T	ENST00000389048.3	-	1	1534	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ALK_ENST00000431873.1_Missense_Mutation_p.A210T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	210					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGCTGGGAGGCGCGAATTGCC	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													36.0	44.0	42.0					2																	30142898		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.628G>A	2.37:g.30142898C>T	ENSP00000373700:p.Ala210Thr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A210T	ENST00000389048.3	37	c.628	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114288	0.77210	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.86097	-2.07;2.16	5.23	5.23	0.72850	.	.	.	.	.	D	0.87609	0.6220	L	0.27053	0.805	0.45883	D	0.998733	D	0.89917	1.0	D	0.83275	0.996	D	0.86254	0.1651	8	.	.	.	.	17.7559	0.88449	0.0:1.0:0.0:0.0	.	210	Q9UM73	ALK_HUMAN	T	210	ENSP00000373700:A210T;ENSP00000414027:A210T	.	A	-	1	0	ALK	29996402	1.000000	0.71417	0.990000	0.47175	0.632000	0.37999	6.476000	0.73587	2.596000	0.87737	0.655000	0.94253	GCC	ALK	-	NULL	ENSG00000171094		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0.00	170	0	C	NM_004304		30142898	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	8.27	122	11	SNP	1.000	T
ALPP	250	genome.wustl.edu	37	2	233245152	233245152	+	Missense_Mutation	SNP	G	G	A	rs148586042	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233245152G>A	ENST00000392027.2	+	7	1084	c.815G>A	c.(814-816)cGc>cAc	p.R272H	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	272					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GTGTGGAACCGCACTGAGCTC	0.652																																																	0								G	HIS/ARG	0,4406		0,0,2203	105.0	112.0	109.0		815	1.1	0.4	2	dbSNP_134	109	3,8597		0,3,4297	no	missense	ALPP	NM_001632.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	272/536	233245152	3,13003	2203	4300	6503	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.815G>A	2.37:g.233245152G>A	ENSP00000375881:p.Arg272His		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.R272H	ENST00000392027.2	37	c.815	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	12.77	2.038819	0.35989	0.0	3.49E-4	ENSG00000163283	ENST00000392027	D	0.97831	-4.56	3.2	1.09	0.20402	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.234706	0.40728	N	0.001032	D	0.96950	0.9004	H	0.95328	3.655	0.36551	D	0.871871	B	0.33212	0.402	B	0.31869	0.137	D	0.93708	0.7021	10	0.72032	D	0.01	.	2.8023	0.05418	0.3268:0.0:0.4648:0.2085	.	272	P05187	PPB1_HUMAN	H	272	ENSP00000375881:R272H	ENSP00000375881:R272H	R	+	2	0	ALPP	232953396	0.004000	0.15560	0.362000	0.25862	0.128000	0.20619	0.508000	0.22692	-0.045000	0.13468	0.305000	0.20034	CGC	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3		0.00	88	0	G	NM_001632		233245152	+1			no_errors	ENST00000392027	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.748	A
ALS2CL	259173	genome.wustl.edu	37	3	46721932	46721932	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:46721932C>T	ENST00000318962.4	-	14	1619	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	ALS2CL_ENST00000415953.1_Silent_p.A512A	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	512					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCGTCTTGTCCGCCTGGAAGG	0.642																																																	0													111.0	105.0	107.0					3																	46721932		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1536G>A	3.37:g.46721932C>T			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.R511Q	ENST00000318962.4	37	c.1532	CCDS2743.1	3																																																																																			ALS2CL	-	NULL	ENSG00000178038		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0.00	102	0	C	NM_147129		46721932	-1	tier1	-	no_errors	ENST00000434140	ensembl	human	known	74_37	missense	7.14	91	7	SNP	0.021	T
ALS2CL	259173	genome.wustl.edu	37	3	46721932	46721932	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:46721932C>T	ENST00000318962.4	-	14	1619	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	ALS2CL_ENST00000415953.1_Silent_p.A512A	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	512					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCGTCTTGTCCGCCTGGAAGG	0.642																																																	0													111.0	105.0	107.0					3																	46721932		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1536G>A	3.37:g.46721932C>T			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.R511Q	ENST00000318962.4	37	c.1532	CCDS2743.1	3																																																																																			ALS2CL	-	NULL	ENSG00000178038		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0.00	81	0	C	NM_147129		46721932	-1	tier1	-	no_errors	ENST00000434140	ensembl	human	known	74_37	missense	7.14	91	7	SNP	0.021	T
AMACR	23600	genome.wustl.edu	37	5	33989465	33989465	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:33989465C>A	ENST00000335606.6	-	5	970	c.882G>T	c.(880-882)gtG>gtT	p.V294V	AMACR_ENST00000502637.1_Silent_p.V279V|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Silent_p.V294V|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	294					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAACCGGAGTCACACAGGCAT	0.502																																																	0													103.0	93.0	96.0					5																	33989465		2203	4300	6503	SO:0001819	synonymous_variant	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.882G>T	5.37:g.33989465C>A			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.V294	ENST00000335606.6	37	c.882	CCDS3902.1	5																																																																																			AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.502	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0.00	82	0	C	NM_014324		33989465	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	silent	8.57	64	6	SNP	1.000	A
AMER3	205147	genome.wustl.edu	37	2	131519854	131519854	+	Missense_Mutation	SNP	C	C	T	rs200636300		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:131519854C>T	ENST00000423981.1	+	2	319	c.209C>T	c.(208-210)gCg>gTg	p.A70V	AMER3_ENST00000321420.4_Missense_Mutation_p.A70V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	70					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AACAAAGGGGCGCAGCTGGAC	0.632																																																	0													18.0	29.0	25.0					2																	131519854		2195	4294	6489	SO:0001583	missense	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.209C>T	2.37:g.131519854C>T	ENSP00000392700:p.Ala70Val		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.A70V	ENST00000423981.1	37	c.209	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555149	0.27739	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.42900	0.96;0.96	5.39	-5.1	0.02911	.	0.803692	0.11384	N	0.569471	T	0.16769	0.0403	N	0.17082	0.46	0.09310	N	1	B	0.24533	0.105	B	0.12156	0.007	T	0.16541	-1.0399	10	0.21014	T	0.42	.	1.8922	0.03250	0.1147:0.2328:0.2261:0.4264	.	70	Q8N944	F123C_HUMAN	V	70	ENSP00000314914:A70V;ENSP00000392700:A70V	ENSP00000314914:A70V	A	+	2	0	FAM123C	131236324	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.078000	0.11375	-1.407000	0.02043	0.561000	0.74099	GCG	AMER3	-	NULL	ENSG00000178171		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3	-	0.00	130	0	C	NM_152698		131519854	+1	tier1	rs200636300	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	10.64	83	10	SNP	0.000	T
AMOTL2	51421	genome.wustl.edu	37	3	134090252	134090252	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:134090252C>T	ENST00000422605.2	-	2	190	c.24G>A	c.(22-24)tcG>tcA	p.S8S	AMOTL2_ENST00000513145.1_Silent_p.S8S|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.S66S|AMOTL2_ENST00000249883.5_Silent_p.S8S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	8					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGACTGTCCCCGAGGAGTCTT	0.652																																																	0													32.0	35.0	34.0					3																	134090252		2195	4294	6489	SO:0001819	synonymous_variant	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.24G>A	3.37:g.134090252C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.S8	ENST00000422605.2	37	c.24		3																																																																																			AMOTL2	-	NULL	ENSG00000114019		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0.00	56	0	C	NM_016201		134090252	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.577	T
AMOTL2	51421	genome.wustl.edu	37	3	134090252	134090252	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:134090252C>T	ENST00000422605.2	-	2	190	c.24G>A	c.(22-24)tcG>tcA	p.S8S	AMOTL2_ENST00000513145.1_Silent_p.S8S|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.S66S|AMOTL2_ENST00000249883.5_Silent_p.S8S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	8					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGACTGTCCCCGAGGAGTCTT	0.652																																																	0													32.0	35.0	34.0					3																	134090252		2195	4294	6489	SO:0001819	synonymous_variant	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.24G>A	3.37:g.134090252C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.S8	ENST00000422605.2	37	c.24		3																																																																																			AMOTL2	-	NULL	ENSG00000114019		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0.00	79	0	C	NM_016201		134090252	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.577	T
ANAPC2	29882	genome.wustl.edu	37	9	140075323	140075323	+	Silent	SNP	G	G	A	rs116545473	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:140075323G>A	ENST00000323927.2	-	8	1531	c.1527C>T	c.(1525-1527)taC>taT	p.Y509Y		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	509					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTTGCTGCCGTAGATGCTGA	0.637													g|||	31	0.0061901	0.0227	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0																0										71,4335	64.1+/-101.4	0,71,2132	119.0	103.0	108.0		1527	-1.8	1.0	9	dbSNP_132	108	1,8599		0,1,4299	no	coding-synonymous	ANAPC2	NM_013366.3		0,72,6431	AA,AG,GG		0.0116,1.6114,0.5536		509/823	140075323	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	0			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1527C>T	9.37:g.140075323G>A			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.Y509	ENST00000323927.2	37	c.1527	CCDS7033.1	9																																																																																			ANAPC2	-	pfam_Cullin_N,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000176248		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1		0.00	122	0	G	NM_013366		140075323	-1			no_errors	ENST00000323927	ensembl	human	known	74_37	silent	5.56	85	5	SNP	0.983	A
ANKK1	255239	genome.wustl.edu	37	11	113270849	113270849	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:113270849G>A	ENST00000303941.3	+	8	2252	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	720							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCAGCTGGACGTCCAGGATGG	0.662																																																	0													17.0	21.0	20.0					11																	113270849		2073	4205	6278	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2158G>A	11.37:g.113270849G>A	ENSP00000306678:p.Val720Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.V720I	ENST00000303941.3	37	c.2158	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.855747	0.00558	.	.	ENSG00000170209	ENST00000303941	T	0.63417	-0.04	4.53	-3.59	0.04583	Ankyrin repeat-containing domain (3);	1.132580	0.06889	N	0.803934	T	0.44540	0.1298	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26258	-1.0108	10	0.26408	T	0.33	-2.8832	12.1132	0.53850	0.5748:0.0:0.4252:0.0	.	720	Q8NFD2	ANKK1_HUMAN	I	720	ENSP00000306678:V720I	ENSP00000306678:V720I	V	+	1	0	ANKK1	112776059	0.023000	0.18921	0.000000	0.03702	0.005000	0.04900	0.923000	0.28757	-0.980000	0.03524	-1.218000	0.01608	GTC	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.662	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0.00	117	0	G	NM_178510		113270849	+1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	6.48	101	7	SNP	0.001	A
ANKK1	255239	genome.wustl.edu	37	11	113270849	113270849	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:113270849G>A	ENST00000303941.3	+	8	2252	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	720							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCAGCTGGACGTCCAGGATGG	0.662																																																	0													17.0	21.0	20.0					11																	113270849		2073	4205	6278	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2158G>A	11.37:g.113270849G>A	ENSP00000306678:p.Val720Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.V720I	ENST00000303941.3	37	c.2158	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.855747	0.00558	.	.	ENSG00000170209	ENST00000303941	T	0.63417	-0.04	4.53	-3.59	0.04583	Ankyrin repeat-containing domain (3);	1.132580	0.06889	N	0.803934	T	0.44540	0.1298	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26258	-1.0108	10	0.26408	T	0.33	-2.8832	12.1132	0.53850	0.5748:0.0:0.4252:0.0	.	720	Q8NFD2	ANKK1_HUMAN	I	720	ENSP00000306678:V720I	ENSP00000306678:V720I	V	+	1	0	ANKK1	112776059	0.023000	0.18921	0.000000	0.03702	0.005000	0.04900	0.923000	0.28757	-0.980000	0.03524	-1.218000	0.01608	GTC	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.662	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0.00	95	0	G	NM_178510		113270849	+1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	6.48	101	7	SNP	0.001	A
ANKRD30BP2	149992	genome.wustl.edu	37	21	14418668	14418668	+	RNA	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:14418668T>G	ENST00000507941.1	+	0	1280				RNU6-614P_ENST00000384369.1_RNA					ankyrin repeat domain 30B pseudogene 2																		TTGCAGAACGTTATGCTGTTG	0.378																																																	0																																												0			AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14418668T>G				RNA	SNP	-	NULL	ENST00000507941.1	37	NULL		21																																																																																			ANKRD30BP2	-	-	ENSG00000224309		0.378	ANKRD30BP2-004	KNOWN	basic	processed_transcript	ANKRD30BP2	HGNC	pseudogene	OTTHUMT00000372094.1	-	0.00	159	0	T	NR_026916		14418668	+1	tier1	-	no_errors	ENST00000507941	ensembl	human	known	74_37	rna	6.37	147	10	SNP	0.021	G
ANTXR1	84168	genome.wustl.edu	37	2	69240707	69240707	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:69240707G>A	ENST00000303714.4	+	1	398	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A26T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A26T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	26					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTCATCTGCGCCGGGCAAGG	0.662									Familial Infantile Hemangioma																																								0													19.0	23.0	22.0					2																	69240707		2170	4264	6434	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.76G>A	2.37:g.69240707G>A	ENSP00000301945:p.Ala26Thr		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A26T	ENST00000303714.4	37	c.76	CCDS1892.1	2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698032	0.30142	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	T;T;T	0.30981	1.51;2.9;1.92	5.01	4.12	0.48240	.	0.389824	0.25851	N	0.027887	T	0.12305	0.0299	N	0.08118	0	0.32181	N	0.580398	B;B;P;B	0.38020	0.013;0.021;0.615;0.296	B;B;B;B	0.25405	0.002;0.011;0.06;0.058	T	0.12967	-1.0527	10	0.16420	T	0.52	-11.1298	12.379	0.55295	0.0:0.0:0.8313:0.1687	.	26;26;26;26	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	26	ENSP00000301945:A26T;ENSP00000387058:A26T;ENSP00000386494:A26T	ENSP00000301945:A26T	A	+	1	0	ANTXR1	69094211	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.099000	0.57755	1.199000	0.43173	0.655000	0.94253	GCC	ANTXR1	-	pirsf_Anthrax_toxin_rcpt	ENSG00000169604		0.662	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	-	0.00	114	0	G	NM_032208		69240707	+1	tier1	-	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	A
ANTXR1	84168	genome.wustl.edu	37	2	69240707	69240707	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:69240707G>A	ENST00000303714.4	+	1	398	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A26T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A26T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	26					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTCATCTGCGCCGGGCAAGG	0.662									Familial Infantile Hemangioma																																								0													19.0	23.0	22.0					2																	69240707		2170	4264	6434	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.76G>A	2.37:g.69240707G>A	ENSP00000301945:p.Ala26Thr		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A26T	ENST00000303714.4	37	c.76	CCDS1892.1	2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698032	0.30142	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	T;T;T	0.30981	1.51;2.9;1.92	5.01	4.12	0.48240	.	0.389824	0.25851	N	0.027887	T	0.12305	0.0299	N	0.08118	0	0.32181	N	0.580398	B;B;P;B	0.38020	0.013;0.021;0.615;0.296	B;B;B;B	0.25405	0.002;0.011;0.06;0.058	T	0.12967	-1.0527	10	0.16420	T	0.52	-11.1298	12.379	0.55295	0.0:0.0:0.8313:0.1687	.	26;26;26;26	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	26	ENSP00000301945:A26T;ENSP00000387058:A26T;ENSP00000386494:A26T	ENSP00000301945:A26T	A	+	1	0	ANTXR1	69094211	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.099000	0.57755	1.199000	0.43173	0.655000	0.94253	GCC	ANTXR1	-	pirsf_Anthrax_toxin_rcpt	ENSG00000169604		0.662	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	-	0.00	118	0	G	NM_032208		69240707	+1	tier1	-	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	A
APBA2	321	genome.wustl.edu	37	15	29346543	29346543	+	Silent	SNP	C	C	T	rs377361968		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:29346543C>T	ENST00000558402.1	+	5	1055	c.456C>T	c.(454-456)caC>caT	p.H152H	APBA2_ENST00000561069.1_Silent_p.H152H|APBA2_ENST00000558330.1_Silent_p.H152H|APBA2_ENST00000411764.1_Silent_p.H152H|APBA2_ENST00000558259.1_Silent_p.H152H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	152					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGGCCACGAGGCTGAAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15256	0.001		0.0	False		,,,				2504	0.0																0								C	,	0,4406		0,0,2203	38.0	38.0	38.0		456,456	-2.6	0.0	15		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	152/738,152/750	29346543	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.456C>T	15.37:g.29346543C>T			E9PGI4|O60571|Q5XKC0	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.H152	ENST00000558402.1	37	c.456	CCDS10022.1	15																																																																																			APBA2	-	NULL	ENSG00000034053		0.652	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0.00	26	0	C	NM_005503		29346543	+1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.000	T
APH1A	51107	genome.wustl.edu	37	1	150238841	150238841	+	Intron	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:150238841C>T	ENST00000369109.3	-	6	922				APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_3'UTR|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAATGTGGGCAATGGACCCG	0.562																																																	0																																										SO:0001627	intron_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.733+91G>A	1.37:g.150238841C>T			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-	ENSG00000117362		0.562	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	-	0.00	47	0	C	NM_016022		150238841	-1	tier1	-	no_errors	ENST00000461320	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.354	T
APH1A	51107	genome.wustl.edu	37	1	150238841	150238841	+	Intron	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:150238841C>T	ENST00000369109.3	-	6	922				APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_3'UTR|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAATGTGGGCAATGGACCCG	0.562																																																	0																																										SO:0001627	intron_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.733+91G>A	1.37:g.150238841C>T			B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-	ENSG00000117362		0.562	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	-	0.00	69	0	C	NM_016022		150238841	-1	tier1	-	no_errors	ENST00000461320	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.354	T
ARHGAP19	84986	genome.wustl.edu	37	10	99003913	99003913	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:99003913C>T	ENST00000358531.4	-	8	1025	c.997G>A	c.(997-999)Gac>Aac	p.D333N	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.D324N|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.D324N|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.D304N	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	333					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGGTCAAGGTCATCCTAAGGA	0.428																																																	0													65.0	67.0	66.0					10																	99003913		2203	4300	6503	SO:0001583	missense	0			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.997G>A	10.37:g.99003913C>T	ENSP00000351333:p.Asp333Asn		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D333N	ENST00000358531.4	37	c.997	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524483	0.85600	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.12465	2.97;2.98;2.99;2.98;2.99;2.68	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.37999	0.1024	M	0.69823	2.125	0.50313	D	0.999866	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.68765	0.959;0.913;0.96	T	0.02909	-1.1095	10	0.44086	T	0.13	-14.5916	19.1131	0.93326	0.0:1.0:0.0:0.0	.	304;333;324	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	N	333;333;324;333;324;152;304	ENSP00000414774:D333N;ENSP00000324468:D333N;ENSP00000347526:D324N;ENSP00000351333:D333N;ENSP00000360066:D324N;ENSP00000351058:D304N	ENSP00000324468:D333N	D	-	1	0	ARHGAP19	98993903	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.684000	0.68197	2.601000	0.87937	0.655000	0.94253	GAC	ARHGAP19-SLIT1	-	NULL	ENSG00000269891		0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	HGNC	protein_coding	OTTHUMT00000049647.2	-	0.00	44	0	C	NM_032900		99003913	-1	tier1	-	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
ARHGAP19	84986	genome.wustl.edu	37	10	99003913	99003913	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:99003913C>T	ENST00000358531.4	-	8	1025	c.997G>A	c.(997-999)Gac>Aac	p.D333N	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.D324N|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.D324N|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.D333N|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.D304N	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	333					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGGTCAAGGTCATCCTAAGGA	0.428																																																	0													65.0	67.0	66.0					10																	99003913		2203	4300	6503	SO:0001583	missense	0			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.997G>A	10.37:g.99003913C>T	ENSP00000351333:p.Asp333Asn		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D333N	ENST00000358531.4	37	c.997	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524483	0.85600	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.12465	2.97;2.98;2.99;2.98;2.99;2.68	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.37999	0.1024	M	0.69823	2.125	0.50313	D	0.999866	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.68765	0.959;0.913;0.96	T	0.02909	-1.1095	10	0.44086	T	0.13	-14.5916	19.1131	0.93326	0.0:1.0:0.0:0.0	.	304;333;324	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	N	333;333;324;333;324;152;304	ENSP00000414774:D333N;ENSP00000324468:D333N;ENSP00000347526:D324N;ENSP00000351333:D333N;ENSP00000360066:D324N;ENSP00000351058:D304N	ENSP00000324468:D333N	D	-	1	0	ARHGAP19	98993903	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.684000	0.68197	2.601000	0.87937	0.655000	0.94253	GAC	ARHGAP19-SLIT1	-	NULL	ENSG00000269891		0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	HGNC	protein_coding	OTTHUMT00000049647.2	-	0.00	68	0	C	NM_032900		99003913	-1	tier1	-	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
ARHGAP5	394	genome.wustl.edu	37	14	32621673	32621673	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:32621673G>A	ENST00000345122.3	+	6	4435	c.4120G>A	c.(4120-4122)Gtt>Att	p.V1374I	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V1374I|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V1373I|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.V113I|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.V109I|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V1373I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1374	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAAAGAAATTGTTAAGAAATT	0.274																																					NSCLC(9;77 350 3443 29227 41353)												0													63.0	66.0	65.0					14																	32621673		2203	4292	6495	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4120G>A	14.37:g.32621673G>A	ENSP00000371897:p.Val1374Ile		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.V1374I	ENST00000345122.3	37	c.4120	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707876	0.48412	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.5	4.56	0.56223	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.120851	0.56097	D	0.000036	T	0.14141	0.0342	L	0.28504	0.86	0.46521	D	0.999086	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.25506	0.061;0.007;0.012	T	0.04165	-1.0972	10	0.41790	T	0.15	.	11.9079	0.52723	0.0:0.1301:0.7355:0.1345	.	109;1373;1374	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	I	1373;1374;109;1374;1373;113;113	ENSP00000452222:V1373I;ENSP00000441692:V1374I;ENSP00000379827:V109I;ENSP00000371897:V1374I;ENSP00000393307:V1373I;ENSP00000407395:V113I;ENSP00000451061:V113I	ENSP00000371897:V1374I	V	+	1	0	ARHGAP5	31691424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.942000	0.49018	2.754000	0.94517	0.585000	0.79938	GTT	ARHGAP5	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000100852		0.274	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	59	0	G	NM_001030055		32621673	+1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176983980	176983980	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:176983980C>A	ENST00000367654.3	-	8	1705	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K490N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K490N|ASTN1_ENST00000367657.3_Missense_Mutation_p.K490N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	498	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTACTGGATCCTTCATGTAGC	0.458																																																	0													417.0	361.0	380.0					1																	176983980		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1494G>T	1.37:g.176983980C>A	ENSP00000356626:p.Lys498Asn		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.K498N	ENST00000367654.3	37	c.1494		1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667164	0.67814	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87412	-2.25;-2.25;2.84;-2.25	5.67	4.75	0.60458	Epidermal growth factor-like (1);	0.045667	0.85682	D	0.000000	T	0.81336	0.4801	N	0.19112	0.55	0.80722	D	1	P;P;P	0.46142	0.873;0.59;0.59	P;B;B	0.44359	0.447;0.354;0.354	D	0.84082	0.0385	10	0.62326	D	0.03	-33.3834	14.7047	0.69179	0.0:0.9285:0.0:0.0715	.	498;490;490	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	490;490;498;490;490	ENSP00000356629:K490N;ENSP00000354536:K490N;ENSP00000356626:K498N;ENSP00000395041:K490N	ENSP00000354536:K490N	K	-	3	2	ASTN1	175250603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.244000	0.32778	2.677000	0.91161	0.561000	0.74099	AAG	ASTN1	-	smart_EG-like_dom	ENSG00000152092		0.458	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	57	0	C	NM_004319		176983980	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A
ATP13A1	57130	genome.wustl.edu	37	19	19758523	19758523	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:19758523C>A	ENST00000357324.6	-	20	2704	c.2678G>T	c.(2677-2679)cGa>cTa	p.R893L	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R775L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	893	Poly-Arg.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCCGCCGTCGCCGCTCGAC	0.697																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													17.0	17.0	17.0					19																	19758523		2202	4298	6500	SO:0001583	missense	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2678G>T	19.37:g.19758523C>A	ENSP00000349877:p.Arg893Leu		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R893L	ENST00000357324.6	37	c.2678	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414748	0.42817	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82167	-1.57;-1.58	5.26	4.22	0.49857	.	0.898439	0.09231	N	0.830584	T	0.75140	0.3809	L	0.36672	1.1	0.39537	D	0.968756	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	T	0.64740	-0.6336	10	0.27785	T	0.31	-15.6252	8.1153	0.30940	0.0:0.8175:0.0:0.1825	.	893;775	Q9HD20;Q9HD20-2	AT131_HUMAN;.	L	775;893	ENSP00000291503:R775L;ENSP00000349877:R893L	ENSP00000291503:R775L	R	-	2	0	ATP13A1	19619523	0.790000	0.28787	0.934000	0.37439	0.893000	0.52053	1.137000	0.31479	1.223000	0.43536	0.655000	0.94253	CGA	ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.697	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0.00	31	0	C	NM_020410		19758523	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.867	A
ATP2B4	493	genome.wustl.edu	37	1	203690434	203690434	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:203690434G>A	ENST00000357681.5	+	17	3831	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	ATP2B4_ENST00000367218.3_Missense_Mutation_p.R903H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R891H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R903H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R903H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	903					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAGCGGCGCCCCTATGGC	0.478																																																	0													107.0	101.0	103.0					1																	203690434		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2708G>A	1.37:g.203690434G>A	ENSP00000350310:p.Arg903His		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R903H	ENST00000357681.5	37	c.2708	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077376	0.76415	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.0	4.07	0.47477	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.52532	D	0.000074	D	0.95392	0.8504	L	0.41824	1.3	0.35931	D	0.832511	B;B;D	0.89917	0.162;0.155;1.0	B;B;D	0.83275	0.053;0.041;0.996	D	0.95717	0.8763	10	0.87932	D	0	-17.0649	7.2683	0.26242	0.2808:0.0:0.7192:0.0	.	903;903;903	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	903;903;891;903;903	ENSP00000350310:R903H;ENSP00000356187:R903H;ENSP00000356188:R891H;ENSP00000375816:R903H;ENSP00000340930:R903H	ENSP00000340930:R903H	R	+	2	0	ATP2B4	201957057	0.679000	0.27596	0.991000	0.47740	0.957000	0.61999	1.457000	0.35212	2.331000	0.79229	0.655000	0.94253	CGC	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000058668		0.478	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1		0.00	69	0	G	NM_001001396		203690434	+1			no_errors	ENST00000357681	ensembl	human	known	74_37	missense	8.33	54	5	SNP	0.986	A
ATP6V0A1	535	genome.wustl.edu	37	17	40666416	40666416	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:40666416C>T	ENST00000343619.4	+	21	2481	c.2358C>T	c.(2356-2358)acC>acT	p.T786T	ATP6V0A1_ENST00000264649.6_Silent_p.T787T|ATP6V0A1_ENST00000546249.1_Silent_p.T786T|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000544137.1_Silent_p.T432T|ATP6V0A1_ENST00000537728.1_Silent_p.T737T|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000393829.2_Silent_p.T780T|ATP6V0A1_ENST00000585525.1_Silent_p.T743T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	786					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CCACCCTGACCGTGGCCATCC	0.612																																																	0													203.0	173.0	183.0					17																	40666416		2203	4300	6503	SO:0001819	synonymous_variant	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2358C>T	17.37:g.40666416C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_V-ATPase_116kDa_su	p.T787	ENST00000343619.4	37	c.2361	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.612	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1		0.00	53	0	C	NM_001130020		40666416	+1			no_errors	ENST00000264649	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.531	T
ATXN7L2	127002	genome.wustl.edu	37	1	110034715	110034715	+	Intron	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:110034715C>T	ENST00000369870.3	+	10	2169				CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2											breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCTAACATGCCGAGCAGCAA	0.547																																																	0																																										SO:0001627	intron_variant	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2154+376C>T	1.37:g.110034715C>T				RNA	SNP	-	NULL	ENST00000369870.3	37	NULL	CCDS30794.1	1																																																																																			ATXN7L2	-	-	ENSG00000162650		0.547	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	-	0.00	53	0	C	NM_153340		110034715	+1	tier1	-	no_errors	ENST00000459635	ensembl	human	known	74_37	rna	6.67	56	4	SNP	0.000	T
ATXN7L2	127002	genome.wustl.edu	37	1	110034715	110034715	+	Intron	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:110034715C>T	ENST00000369870.3	+	10	2169				CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2											breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCTAACATGCCGAGCAGCAA	0.547																																																	0																																										SO:0001627	intron_variant	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2154+376C>T	1.37:g.110034715C>T				RNA	SNP	-	NULL	ENST00000369870.3	37	NULL	CCDS30794.1	1																																																																																			ATXN7L2	-	-	ENSG00000162650		0.547	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	-	0.00	94	0	C	NM_153340		110034715	+1	tier1	-	no_errors	ENST00000459635	ensembl	human	known	74_37	rna	6.67	56	4	SNP	0.000	T
AURKC	6795	genome.wustl.edu	37	19	57744904	57744904	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57744904A>C	ENST00000302804.7	+	5	698	c.512A>C	c.(511-513)aAc>aCc	p.N171T	AURKC_ENST00000599062.1_Missense_Mutation_p.N168T|AURKC_ENST00000598785.1_Missense_Mutation_p.N137T|AURKC_ENST00000415300.2_Missense_Mutation_p.N152T|AURKC_ENST00000448930.1_Missense_Mutation_p.N137T	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AAGCCAGAGAACCTGCTGCTG	0.522																																																	0													122.0	114.0	117.0					19																	57744904		2203	4300	6503	SO:0001583	missense	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.512A>C	19.37:g.57744904A>C	ENSP00000302898:p.Asn171Thr		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N171T	ENST00000302804.7	37	c.512	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856697	0.71834	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	D;D;D	0.91996	-2.95;-2.95;-2.95	3.95	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97818	1.0255	10	0.87932	D	0	-26.6187	11.4506	0.50149	1.0:0.0:0.0:0.0	.	168;171;152	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	T	152;137;171	ENSP00000407162:N152T;ENSP00000406798:N137T;ENSP00000302898:N171T	ENSP00000302898:N171T	N	+	2	0	AURKC	62436716	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.719000	0.84751	2.024000	0.59613	0.459000	0.35465	AAC	AURKC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105146		0.522	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	-	0.00	70	0	A	NM_003160		57744904	+1	tier1	-	no_errors	ENST00000302804	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	C
AURKC	6795	genome.wustl.edu	37	19	57744904	57744904	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57744904A>C	ENST00000302804.7	+	5	698	c.512A>C	c.(511-513)aAc>aCc	p.N171T	AURKC_ENST00000599062.1_Missense_Mutation_p.N168T|AURKC_ENST00000598785.1_Missense_Mutation_p.N137T|AURKC_ENST00000415300.2_Missense_Mutation_p.N152T|AURKC_ENST00000448930.1_Missense_Mutation_p.N137T	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AAGCCAGAGAACCTGCTGCTG	0.522																																																	0													122.0	114.0	117.0					19																	57744904		2203	4300	6503	SO:0001583	missense	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.512A>C	19.37:g.57744904A>C	ENSP00000302898:p.Asn171Thr		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N171T	ENST00000302804.7	37	c.512	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856697	0.71834	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	D;D;D	0.91996	-2.95;-2.95;-2.95	3.95	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97818	1.0255	10	0.87932	D	0	-26.6187	11.4506	0.50149	1.0:0.0:0.0:0.0	.	168;171;152	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	T	152;137;171	ENSP00000407162:N152T;ENSP00000406798:N137T;ENSP00000302898:N171T	ENSP00000302898:N171T	N	+	2	0	AURKC	62436716	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.719000	0.84751	2.024000	0.59613	0.459000	0.35465	AAC	AURKC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105146		0.522	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	-	0.00	77	0	A	NM_003160		57744904	+1	tier1	-	no_errors	ENST00000302804	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	C
B2M	567	genome.wustl.edu	37	15	45007689	45007690	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:45007689_45007690delTA	ENST00000558401.1	+	2	206_207	c.136_137delTA	c.(136-138)tatfs	p.Y46fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.Y46fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.Y46fs|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	46	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CCTGAATTGCTATGTGTCTGGG	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.136_137delTA	15.37:g.45007689_45007690delTA	ENSP00000452780:p.Tyr46fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y46fs	ENST00000558401.1	37	c.136_137	CCDS10113.1	15																																																																																			B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.401	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0.00	118	0	TA	NM_004048		45007690	+1			no_errors	ENST00000544417	ensembl	human	known	74_37	frame_shift_del	6.67	84	6	DEL	1.000:1.000	0
BACH2	60468	genome.wustl.edu	37	6	90642385	90642385	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:90642385C>T	ENST00000257749.4	-	9	2975	c.2268G>A	c.(2266-2268)gcG>gcA	p.A756A	BACH2_ENST00000343122.3_Silent_p.A756A|BACH2_ENST00000537989.1_Silent_p.A756A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	756						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.A756A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATTGGGAGGCCGCAATGTTCT	0.647																																																	1	Substitution - coding silent(1)	ovary(1)											42.0	43.0	42.0					6																	90642385		2203	4300	6503	SO:0001819	synonymous_variant	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2268G>A	6.37:g.90642385C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A756	ENST00000257749.4	37	c.2268	CCDS5026.1	6																																																																																			BACH2	-	NULL	ENSG00000112182		0.647	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	-	0.00	52	0	C	NM_021813		90642385	-1	tier1	-	no_errors	ENST00000257749	ensembl	human	known	74_37	silent	16.42	56	11	SNP	0.059	T
BAI1	575	genome.wustl.edu	37	8	143563035	143563035	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:143563035G>A	ENST00000517894.1	+	11	2987	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R698Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	698					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAGATTTTCCGGAGAGCGTAC	0.607																																																	0													46.0	54.0	51.0					8																	143563035		2029	4168	6197	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2093G>A	8.37:g.143563035G>A	ENSP00000430945:p.Arg698Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R698Q	ENST00000517894.1	37	c.2093		8	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008432	0.54361	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.06068	3.35;3.35	4.7	4.7	0.59300	.	0.076082	0.50627	U	0.000106	T	0.13756	0.0333	L	0.59436	1.845	0.48135	D	0.999598	D	0.59357	0.985	P	0.51079	0.658	T	0.07462	-1.0771	10	0.27785	T	0.31	.	16.6083	0.84837	0.0:0.0:1.0:0.0	.	698	E9PBK0	.	Q	698	ENSP00000430945:R698Q;ENSP00000313046:R698Q	ENSP00000313046:R698Q	R	+	2	0	BAI1	143560037	1.000000	0.71417	0.969000	0.41365	0.122000	0.20287	4.895000	0.63214	2.153000	0.67306	0.313000	0.20887	CGG	BAI1	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000181790		0.607	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0.00	73	0	G	NM_001702		143563035	+1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.998	A
BCCIP	56647	genome.wustl.edu	37	10	127520211	127520212	+	Intron	INS	-	-	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:127520211_127520212insT	ENST00000278100.6	+	5	611				BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein						cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGAACAGTAATTTTTTTTTCA	0.371																																																	0																																										SO:0001627	intron_variant	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.599+35->T	10.37:g.127520220_127520220dupT			B3KP45|Q8ND15|Q96GC4|Q9P288	RNA	INS	-	NULL	ENST00000278100.6	37	NULL	CCDS7651.1	10																																																																																			BCCIP	-	-	ENSG00000107949		0.371	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1		0.00	31	0	-			127520212	+1	tier1		no_errors	ENST00000463330	ensembl	human	known	74_37	rna	8.11	34	3	INS	0.000:0.000	T
BCOR	54880	genome.wustl.edu	37	X	39922265	39922265	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:39922265C>T	ENST00000378444.4	-	9	4135	c.3907G>A	c.(3907-3909)Ggc>Agc	p.G1303S	BCOR_ENST00000397354.3_Missense_Mutation_p.G1269S|BCOR_ENST00000378455.4_Missense_Mutation_p.G1251S|BCOR_ENST00000342274.4_Missense_Mutation_p.G1269S|BCOR_ENST00000378463.1_Missense_Mutation_p.G146S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1303					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCTTTTTGCCGCCTGCACTG	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													45.0	39.0	41.0					X																	39922265		2184	4268	6452	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3907G>A	X.37:g.39922265C>T	ENSP00000367705:p.Gly1303Ser		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1303S	ENST00000378444.4	37	c.3907	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464898	0.26335	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.65364	-0.15;1.22;1.28;1.25;1.25;1.25	5.87	5.87	0.94306	.	.	.	.	.	T	0.28433	0.0703	N	0.08118	0	0.37018	D	0.896041	B;P;B	0.43392	0.448;0.805;0.448	B;B;B	0.25884	0.049;0.064;0.061	T	0.38351	-0.9665	9	0.10902	T	0.67	-25.6834	6.8121	0.23811	0.0:0.7707:0.0:0.2293	.	1251;1303;1269	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	S	173;146;1251;1269;1303;1269;1269	ENSP00000408006:G173S;ENSP00000367724:G146S;ENSP00000367716:G1251S;ENSP00000380512:G1269S;ENSP00000367705:G1303S;ENSP00000345923:G1269S	ENSP00000345923:G1269S	G	-	1	0	BCOR	39807209	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	1.072000	0.30678	2.467000	0.83353	0.600000	0.82982	GGC	BCOR	-	NULL	ENSG00000183337		0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	-	0.00	42	0	C	NM_017745		39922265	-1	tier1	-	no_errors	ENST00000378444	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	T
BCOR	54880	genome.wustl.edu	37	X	39922265	39922265	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:39922265C>T	ENST00000378444.4	-	9	4135	c.3907G>A	c.(3907-3909)Ggc>Agc	p.G1303S	BCOR_ENST00000397354.3_Missense_Mutation_p.G1269S|BCOR_ENST00000378455.4_Missense_Mutation_p.G1251S|BCOR_ENST00000342274.4_Missense_Mutation_p.G1269S|BCOR_ENST00000378463.1_Missense_Mutation_p.G146S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1303					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCTTTTTGCCGCCTGCACTG	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													45.0	39.0	41.0					X																	39922265		2184	4268	6452	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3907G>A	X.37:g.39922265C>T	ENSP00000367705:p.Gly1303Ser		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1303S	ENST00000378444.4	37	c.3907	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464898	0.26335	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.65364	-0.15;1.22;1.28;1.25;1.25;1.25	5.87	5.87	0.94306	.	.	.	.	.	T	0.28433	0.0703	N	0.08118	0	0.37018	D	0.896041	B;P;B	0.43392	0.448;0.805;0.448	B;B;B	0.25884	0.049;0.064;0.061	T	0.38351	-0.9665	9	0.10902	T	0.67	-25.6834	6.8121	0.23811	0.0:0.7707:0.0:0.2293	.	1251;1303;1269	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	S	173;146;1251;1269;1303;1269;1269	ENSP00000408006:G173S;ENSP00000367724:G146S;ENSP00000367716:G1251S;ENSP00000380512:G1269S;ENSP00000367705:G1303S;ENSP00000345923:G1269S	ENSP00000345923:G1269S	G	-	1	0	BCOR	39807209	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	1.072000	0.30678	2.467000	0.83353	0.600000	0.82982	GGC	BCOR	-	NULL	ENSG00000183337		0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	-	0.00	46	0	C	NM_017745		39922265	-1	tier1	-	no_errors	ENST00000378444	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	T
BCR	613	genome.wustl.edu	37	22	23658024	23658025	+	3'UTR	INS	-	-	TA	rs374974844		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:23658024_23658025insTA	ENST00000305877.8	+	0	4882_4883				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TGAACTTAACTTAGAGTCTAAA	0.5			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*316->TA	22.37:g.23658025_23658026dupTA			P78501|Q12842|Q4LE80|Q6NZI3	RNA	INS	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.500	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0.00	48	0	-	NM_004327		23658025	+1	tier1		no_errors	ENST00000436990	ensembl	human	known	74_37	rna	10.53	34	4	INS	0.997:0.998	TA
BCR	613	genome.wustl.edu	37	22	23658024	23658025	+	3'UTR	INS	-	-	TA	rs374974844		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:23658024_23658025insTA	ENST00000305877.8	+	0	4882_4883				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TGAACTTAACTTAGAGTCTAAA	0.5			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*316->TA	22.37:g.23658025_23658026dupTA			P78501|Q12842|Q4LE80|Q6NZI3	RNA	INS	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.500	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0.00	55	0	-	NM_004327		23658025	+1	tier1		no_errors	ENST00000436990	ensembl	human	known	74_37	rna	10.53	34	4	INS	0.997:0.998	TA
BHMT	635	genome.wustl.edu	37	5	78411636	78411636	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:78411636G>T	ENST00000274353.5	+	2	187	c.80G>T	c.(79-81)gGa>gTa	p.G27V	BHMT_ENST00000524080.1_Missense_Mutation_p.G27V|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	27	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATTGGAGATGGAGGGTTTGTC	0.473																																																	0													169.0	158.0	162.0					5																	78411636		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.80G>T	5.37:g.78411636G>T	ENSP00000274353:p.Gly27Val		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.G27V	ENST00000274353.5	37	c.80	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906638	0.92107	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.79845	-1.31;-1.31	5.39	5.39	0.77823	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94445	0.7662	10	0.87932	D	0	-25.701	19.5039	0.95106	0.0:0.0:1.0:0.0	.	27;27	E5RJH0;Q93088	.;BHMT1_HUMAN	V	27	ENSP00000274353:G27V;ENSP00000428240:G27V	ENSP00000274353:G27V	G	+	2	0	BHMT	78447392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.689000	0.91719	0.557000	0.71058	GGA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000145692		0.473	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0.00	130	0	G	NM_001713		78411636	+1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
BHMT	635	genome.wustl.edu	37	5	78411636	78411636	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:78411636G>T	ENST00000274353.5	+	2	187	c.80G>T	c.(79-81)gGa>gTa	p.G27V	BHMT_ENST00000524080.1_Missense_Mutation_p.G27V|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	27	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATTGGAGATGGAGGGTTTGTC	0.473																																																	0													169.0	158.0	162.0					5																	78411636		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.80G>T	5.37:g.78411636G>T	ENSP00000274353:p.Gly27Val		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.G27V	ENST00000274353.5	37	c.80	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906638	0.92107	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.79845	-1.31;-1.31	5.39	5.39	0.77823	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94445	0.7662	10	0.87932	D	0	-25.701	19.5039	0.95106	0.0:0.0:1.0:0.0	.	27;27	E5RJH0;Q93088	.;BHMT1_HUMAN	V	27	ENSP00000274353:G27V;ENSP00000428240:G27V	ENSP00000274353:G27V	G	+	2	0	BHMT	78447392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.689000	0.91719	0.557000	0.71058	GGA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000145692		0.473	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0.00	56	0	G	NM_001713		78411636	+1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
BLM	641	genome.wustl.edu	37	15	91303326	91303326	+	Intron	DEL	T	T	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:91303326delT	ENST00000355112.3	+	6	1205				BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like						alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			tagccAAGACTTTTTTTTTTT	0.428			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													13.0	14.0	14.0					15																	91303326		2169	4276	6445	SO:0001627	intron_variant	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1088-51T>-	15.37:g.91303326delT			Q52M96	Frame_Shift_Del	DEL	NULL	p.F404fs	ENST00000355112.3	37	c.1203	CCDS10363.1	15																																																																																			BLM	-	NULL	ENSG00000197299		0.428	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1		0.00	28	0	T			91303326	+1	tier1		no_errors	ENST00000559724	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	0.021	-
C10orf71	118461	genome.wustl.edu	37	10	50532636	50532636	+	Silent	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50532636T>G	ENST00000374144.3	+	3	2334	c.2046T>G	c.(2044-2046)ccT>ccG	p.P682P	C10orf71_ENST00000323868.4_Silent_p.P682P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	682										endometrium(1)	1						AGACAGAACCTGAGAGGGAAG	0.502																																																	0													43.0	46.0	45.0					10																	50532636		1878	4098	5976	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2046T>G	10.37:g.50532636T>G			A0AVL8	Silent	SNP	NULL	p.P682	ENST00000374144.3	37	c.2046	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0.00	46	0	T	NM_199459		50532636	+1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.000	G
C22orf42	150297	genome.wustl.edu	37	22	32546459	32546459	+	Silent	SNP	G	G	A	rs374310346		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:32546459G>A	ENST00000382097.3	-	7	573	c.501C>T	c.(499-501)gtC>gtT	p.V167V	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	167										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TGAGATCTTCGACCAAATCTA	0.483																																																	0								G		0,4406		0,0,2203	94.0	82.0	86.0		501	-0.6	0.0	22		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C22orf42	NM_001010859.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/252	32546459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.501C>T	22.37:g.32546459G>A			A4QPH5	Silent	SNP	NULL	p.V167	ENST00000382097.3	37	c.501	CCDS33639.1	22																																																																																			C22orf42	-	NULL	ENSG00000205856		0.483	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	HGNC	protein_coding	OTTHUMT00000075268.2	-	0.00	88	0	G	NM_001010859		32546459	-1	tier1	-	no_errors	ENST00000382097	ensembl	human	known	74_37	silent	9.84	55	6	SNP	0.000	A
C7orf26	79034	genome.wustl.edu	37	7	6631456	6631456	+	Silent	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:6631456G>C	ENST00000344417.5	+	2	639	c.372G>C	c.(370-372)gtG>gtC	p.V124V	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Silent_p.V105V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	124										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CGGTGGCTGTGTGTCGAATCC	0.562																																																	0													135.0	120.0	125.0					7																	6631456		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.372G>C	7.37:g.6631456G>C			Q9BQ43	Silent	SNP	NULL	p.V124	ENST00000344417.5	37	c.372	CCDS5353.1	7																																																																																			C7orf26	-	NULL	ENSG00000146576		0.562	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	-	0.00	69	0	G	NM_024067		6631456	+1	tier1	-	no_errors	ENST00000344417	ensembl	human	known	74_37	silent	9.23	59	6	SNP	1.000	C
C7orf26	79034	genome.wustl.edu	37	7	6631456	6631456	+	Silent	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:6631456G>C	ENST00000344417.5	+	2	639	c.372G>C	c.(370-372)gtG>gtC	p.V124V	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Silent_p.V105V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	124										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CGGTGGCTGTGTGTCGAATCC	0.562																																																	0													135.0	120.0	125.0					7																	6631456		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.372G>C	7.37:g.6631456G>C			Q9BQ43	Silent	SNP	NULL	p.V124	ENST00000344417.5	37	c.372	CCDS5353.1	7																																																																																			C7orf26	-	NULL	ENSG00000146576		0.562	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	-	0.00	70	0	G	NM_024067		6631456	+1	tier1	-	no_errors	ENST00000344417	ensembl	human	known	74_37	silent	9.23	59	6	SNP	1.000	C
CA9	768	genome.wustl.edu	37	9	35676359	35676359	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:35676359C>A	ENST00000378357.4	+	5	917	c.813C>A	c.(811-813)ggC>ggA	p.G271G	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	271	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GCCCGGGAGGCCTGGCCGTGT	0.637																																																	0													110.0	116.0	114.0					9																	35676359		2203	4300	6503	SO:0001819	synonymous_variant	0			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.813C>A	9.37:g.35676359C>A			Q5T4R1	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G271	ENST00000378357.4	37	c.813	CCDS6585.1	9																																																																																			CA9	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000107159		0.637	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1		0.00	75	0	C	NM_001216		35676359	+1			no_errors	ENST00000378357	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.992	A
CACNA2D4	93589	genome.wustl.edu	37	12	1995136	1995136	+	Nonsense_Mutation	SNP	G	G	A	rs369451253		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1995136G>A	ENST00000382722.5	-	9	1425	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.R291*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.R271*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.R291*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	355	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTCACCTCTCGATTGTCTCGG	0.547																																					Colon(2;101 179 21030 23310 28141)												0								G	stop/ARG	0,4046		0,0,2023	57.0	62.0	60.0		1063	4.2	1.0	12		60	1,8359		0,1,4179	no	stop-gained	CACNA2D4	NM_172364.4		0,1,6202	AA,AG,GG		0.012,0.0,0.0081		355/1138	1995136	1,12405	2023	4180	6203	SO:0001587	stop_gained	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1063C>T	12.37:g.1995136G>A	ENSP00000372169:p.Arg355*		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R355*	ENST00000382722.5	37	c.1063	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	40	7.955971	0.98580	0.0	1.2E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	12.2607	0.54649	0.0:0.0:0.5295:0.4705	.	.	.	.	X	291;355;355	.	ENSP00000280663:R355X	R	-	1	2	CACNA2D4	1865397	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	1.477000	0.35431	1.120000	0.41904	0.462000	0.41574	CGA	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.547	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0.00	29	0	G			1995136	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	18.00	41	9	SNP	1.000	A
CACNA2D4	93589	genome.wustl.edu	37	12	1995136	1995136	+	Nonsense_Mutation	SNP	G	G	A	rs369451253		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1995136G>A	ENST00000382722.5	-	9	1425	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.R291*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.R271*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.R355*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.R291*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	355	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTCACCTCTCGATTGTCTCGG	0.547																																					Colon(2;101 179 21030 23310 28141)												0								G	stop/ARG	0,4046		0,0,2023	57.0	62.0	60.0		1063	4.2	1.0	12		60	1,8359		0,1,4179	no	stop-gained	CACNA2D4	NM_172364.4		0,1,6202	AA,AG,GG		0.012,0.0,0.0081		355/1138	1995136	1,12405	2023	4180	6203	SO:0001587	stop_gained	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1063C>T	12.37:g.1995136G>A	ENSP00000372169:p.Arg355*		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R355*	ENST00000382722.5	37	c.1063	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	40	7.955971	0.98580	0.0	1.2E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	12.2607	0.54649	0.0:0.0:0.5295:0.4705	.	.	.	.	X	291;355;355	.	ENSP00000280663:R355X	R	-	1	2	CACNA2D4	1865397	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	1.477000	0.35431	1.120000	0.41904	0.462000	0.41574	CGA	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.547	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0.00	43	0	G			1995136	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	18.00	41	9	SNP	1.000	A
CALY	50632	genome.wustl.edu	37	10	135141459	135141459	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:135141459C>A	ENST00000252939.4	-	3	289	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	CALY_ENST00000467611.1_5'Flank|CALY_ENST00000368555.3_Missense_Mutation_p.D66Y|CALY_ENST00000368556.2_Missense_Mutation_p.D66Y|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368558.1_Missense_Mutation_p.D66Y	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	66					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	CCCTCCAGGTCAGGGAAATTC	0.597																																																	0													129.0	100.0	110.0					10																	135141459		2201	4300	6501	SO:0001583	missense	0			AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"""dopamine receptor D1 interacting protein"""	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.196G>T	10.37:g.135141459C>A	ENSP00000252939:p.Asp66Tyr		Q5VWX3|Q5VWY5|Q5VWY6	Missense_Mutation	SNP	pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp	p.D66Y	ENST00000252939.4	37	c.196	CCDS7678.1	10	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614477	0.46631	.	.	ENSG00000130643	ENST00000252939;ENST00000368558;ENST00000368556;ENST00000368555	.	.	.	4.31	4.31	0.51392	.	0.168953	0.36482	N	0.002572	T	0.69088	0.3072	L	0.51422	1.61	0.36824	D	0.886529	D	0.89917	1.0	D	0.91635	0.999	T	0.74856	-0.3522	9	0.56958	D	0.05	-5.1419	13.0002	0.58670	0.0:1.0:0.0:0.0	.	66	Q9NYX4	CALY_HUMAN	Y	66	.	ENSP00000252939:D66Y	D	-	1	0	CALY	134991449	0.002000	0.14202	0.952000	0.39060	0.549000	0.35272	0.423000	0.21313	2.339000	0.79563	0.501000	0.49751	GAC	CALY	-	pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp	ENSG00000130643		0.597	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALY	HGNC	protein_coding	OTTHUMT00000051122.1		0.00	76	0	C	NM_015722		135141459	-1			no_errors	ENST00000252939	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.945	A
CAMSAP1	157922	genome.wustl.edu	37	9	138742207	138742207	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:138742207G>A	ENST00000389532.4	-	6	973	c.909C>T	c.(907-909)ctC>ctT	p.L303L	CAMSAP1_ENST00000409386.3_Silent_p.L314L|CAMSAP1_ENST00000312405.6_Silent_p.L25L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	303	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCCAAGGTGAGATAAAAAC	0.348																																																	0													75.0	83.0	80.0					9																	138742207		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.909C>T	9.37:g.138742207G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.L314	ENST00000389532.4	37	c.942	CCDS35176.2	9																																																																																			CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	ENSG00000130559		0.348	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	-	0.00	45	0	G	XM_351857		138742207	-1	tier1	-	no_errors	ENST00000409386	ensembl	human	known	74_37	silent	14.71	58	10	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200817241	200817241	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:200817241C>A	ENST00000236925.4	+	12	1426	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	CAMSAP2_ENST00000413307.2_Silent_p.I432I|CAMSAP2_ENST00000358823.2_Silent_p.I448I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	459					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ACCGAGGAATCACTCGTTCTA	0.348																																																	0													75.0	77.0	76.0					1																	200817241		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1377C>A	1.37:g.200817241C>A			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I459	ENST00000236925.4	37	c.1377		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.348	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0.00	54	0	C	NM_203459		200817241	+1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.377	A
CAMSAP2	23271	genome.wustl.edu	37	1	200817241	200817241	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:200817241C>A	ENST00000236925.4	+	12	1426	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	CAMSAP2_ENST00000413307.2_Silent_p.I432I|CAMSAP2_ENST00000358823.2_Silent_p.I448I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	459					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ACCGAGGAATCACTCGTTCTA	0.348																																																	0													75.0	77.0	76.0					1																	200817241		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1377C>A	1.37:g.200817241C>A			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I459	ENST00000236925.4	37	c.1377		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.348	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0.00	60	0	C	NM_203459		200817241	+1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.377	A
CAPRIN2	65981	genome.wustl.edu	37	12	30906600	30906600	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:30906600G>A	ENST00000395805.2	-	1	645	c.98C>T	c.(97-99)gCc>gTc	p.A33V	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A33V|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A33V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A33V|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACACAGCCAGGCAATAACTTC	0.443											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	91.0	91.0					12																	30906600		2203	4300	6503	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.98C>T	12.37:g.30906600G>A	ENSP00000379150:p.Ala33Val	820		Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A33V	ENST00000395805.2	37	c.98	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043102	0.36085	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.72394	-0.65;2.81;-0.63;2.81	4.46	1.37	0.22104	.	2.799630	0.01729	N	0.028777	T	0.49881	0.1583	N	0.08118	0	0.18873	N	0.999985	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.37549	-0.9701	9	.	.	.	0.68	5.4954	0.16799	0.3715:0.0:0.6285:0.0	.	33;33;33;33	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	V	33	ENSP00000298892:A33V;ENSP00000379150:A33V;ENSP00000251071:A33V;ENSP00000391479:A33V	.	A	-	2	0	CAPRIN2	30797867	0.000000	0.05858	0.000000	0.03702	0.793000	0.44817	0.286000	0.18902	0.514000	0.28300	0.655000	0.94253	GCC	CAPRIN2	-	NULL	ENSG00000110888		0.443	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	-	0.00	50	0	G	NM_023925		30906600	-1	tier1	-	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.000	A
CASP2	835	genome.wustl.edu	37	7	142991840	142991840	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:142991840C>T	ENST00000310447.5	+	6	962	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	241					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CTATGACGTCCATGTTCTATG	0.468																																																	0													90.0	73.0	79.0					7																	142991840		2203	4300	6503	SO:0001583	missense	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.721C>T	7.37:g.142991840C>T	ENSP00000312664:p.His241Tyr		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.H241Y	ENST00000310447.5	37	c.721	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105663	0.01828	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.20881	2.04	5.92	4.99	0.66335	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.540708	0.23405	N	0.048534	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	B	0.18968	0.032	B	0.22601	0.04	T	0.04333	-1.0959	10	0.51188	T	0.08	.	9.6875	0.40107	0.1401:0.5496:0.3102:0.0	.	241	P42575	CASP2_HUMAN	Y	241;210	ENSP00000312664:H241Y	ENSP00000312664:H241Y	H	+	1	0	CASP2	142701962	0.051000	0.20477	0.825000	0.32803	0.153000	0.21895	2.587000	0.46128	2.820000	0.97059	0.650000	0.86243	CAT	CASP2	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000106144		0.468	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	0.00	46	0	C	NM_032982		142991840	+1	tier1	-	no_errors	ENST00000310447	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.934	T
CASP2	835	genome.wustl.edu	37	7	142991840	142991840	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:142991840C>T	ENST00000310447.5	+	6	962	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	241					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CTATGACGTCCATGTTCTATG	0.468																																																	0													90.0	73.0	79.0					7																	142991840		2203	4300	6503	SO:0001583	missense	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.721C>T	7.37:g.142991840C>T	ENSP00000312664:p.His241Tyr		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.H241Y	ENST00000310447.5	37	c.721	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105663	0.01828	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.20881	2.04	5.92	4.99	0.66335	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.540708	0.23405	N	0.048534	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	B	0.18968	0.032	B	0.22601	0.04	T	0.04333	-1.0959	10	0.51188	T	0.08	.	9.6875	0.40107	0.1401:0.5496:0.3102:0.0	.	241	P42575	CASP2_HUMAN	Y	241;210	ENSP00000312664:H241Y	ENSP00000312664:H241Y	H	+	1	0	CASP2	142701962	0.051000	0.20477	0.825000	0.32803	0.153000	0.21895	2.587000	0.46128	2.820000	0.97059	0.650000	0.86243	CAT	CASP2	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000106144		0.468	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	0.00	72	0	C	NM_032982		142991840	+1	tier1	-	no_errors	ENST00000310447	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.934	T
CCDC85A	114800	genome.wustl.edu	37	2	56611446	56611446	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:56611446A>G	ENST00000407595.2	+	6	2120	c.1618A>G	c.(1618-1620)Att>Gtt	p.I540V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	540										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTCCTGGAATTAGGCAACA	0.413																																																	0													108.0	106.0	106.0					2																	56611446		1954	4143	6097	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1618A>G	2.37:g.56611446A>G	ENSP00000384040:p.Ile540Val			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.I540V	ENST00000407595.2	37	c.1618	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192798	0.38707	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.95	5.95	0.96441	.	0.146895	0.46758	D	0.000277	T	0.55970	0.1954	N	0.14661	0.345	0.35465	D	0.796818	P	0.48640	0.913	P	0.61592	0.891	T	0.68194	-0.5473	9	0.59425	D	0.04	-40.9922	16.4323	0.83853	1.0:0.0:0.0:0.0	.	540	Q96PX6	CC85A_HUMAN	V	540;129	.	ENSP00000384040:I540V	I	+	1	0	CCDC85A	56464950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	2.281000	0.76405	0.528000	0.53228	ATT	CCDC85A	-	NULL	ENSG00000055813		0.413	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0.00	72	0	A			56611446	+1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G
CCDC85A	114800	genome.wustl.edu	37	2	56611446	56611446	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:56611446A>G	ENST00000407595.2	+	6	2120	c.1618A>G	c.(1618-1620)Att>Gtt	p.I540V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	540										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTCCTGGAATTAGGCAACA	0.413																																																	0													108.0	106.0	106.0					2																	56611446		1954	4143	6097	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1618A>G	2.37:g.56611446A>G	ENSP00000384040:p.Ile540Val			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.I540V	ENST00000407595.2	37	c.1618	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192798	0.38707	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.95	5.95	0.96441	.	0.146895	0.46758	D	0.000277	T	0.55970	0.1954	N	0.14661	0.345	0.35465	D	0.796818	P	0.48640	0.913	P	0.61592	0.891	T	0.68194	-0.5473	9	0.59425	D	0.04	-40.9922	16.4323	0.83853	1.0:0.0:0.0:0.0	.	540	Q96PX6	CC85A_HUMAN	V	540;129	.	ENSP00000384040:I540V	I	+	1	0	CCDC85A	56464950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	2.281000	0.76405	0.528000	0.53228	ATT	CCDC85A	-	NULL	ENSG00000055813		0.413	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0.00	90	0	A			56611446	+1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G
CCDC141	285025	genome.wustl.edu	37	2	179730546	179730546	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:179730546C>T	ENST00000420890.2	-	17	2789	c.2672G>A	c.(2671-2673)cGg>cAg	p.R891Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R316Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	891										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGACAGGGTCCGTCCATACTC	0.532																																																	0													347.0	309.0	322.0					2																	179730546		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2672G>A	2.37:g.179730546C>T	ENSP00000395995:p.Arg891Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R891Q	ENST00000420890.2	37	c.2672		2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069630	0.36470	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.44881	0.91;1.43;1.43;1.54	6.07	-4.85	0.03142	.	1.075440	0.07211	N	0.859190	T	0.24890	0.0604	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40040	-0.9584	10	0.09338	T	0.73	-1.485	15.8301	0.78743	0.0:0.1575:0.0:0.8425	.	316	Q6ZP82	CC141_HUMAN	Q	891;335;316;891	ENSP00000395995:R891Q;ENSP00000344627:R335Q;ENSP00000295723:R316Q;ENSP00000390190:R891Q	ENSP00000295723:R316Q	R	-	2	0	CCDC141	179438791	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.169000	0.09911	-0.709000	0.05008	-1.000000	0.02509	CGG	CCDC141	-	NULL	ENSG00000163492		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0.00	114	0	C	NM_173648		179730546	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.000	T
CCDC141	285025	genome.wustl.edu	37	2	179730546	179730546	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:179730546C>T	ENST00000420890.2	-	17	2789	c.2672G>A	c.(2671-2673)cGg>cAg	p.R891Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R316Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	891										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGACAGGGTCCGTCCATACTC	0.532																																																	0													347.0	309.0	322.0					2																	179730546		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2672G>A	2.37:g.179730546C>T	ENSP00000395995:p.Arg891Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R891Q	ENST00000420890.2	37	c.2672		2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069630	0.36470	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.44881	0.91;1.43;1.43;1.54	6.07	-4.85	0.03142	.	1.075440	0.07211	N	0.859190	T	0.24890	0.0604	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40040	-0.9584	10	0.09338	T	0.73	-1.485	15.8301	0.78743	0.0:0.1575:0.0:0.8425	.	316	Q6ZP82	CC141_HUMAN	Q	891;335;316;891	ENSP00000395995:R891Q;ENSP00000344627:R335Q;ENSP00000295723:R316Q;ENSP00000390190:R891Q	ENSP00000295723:R316Q	R	-	2	0	CCDC141	179438791	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.169000	0.09911	-0.709000	0.05008	-1.000000	0.02509	CGG	CCDC141	-	NULL	ENSG00000163492		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0.00	72	0	C	NM_173648		179730546	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.000	T
CCDC108	255101	genome.wustl.edu	37	2	219874718	219874718	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:219874718G>A	ENST00000341552.5	-	27	4481	c.4398C>T	c.(4396-4398)tcC>tcT	p.S1466S	CCDC108_ENST00000453220.1_Silent_p.S1466S|CCDC108_ENST00000441968.1_Silent_p.S1466S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1466						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTTCTTGGAGATGTTGT	0.542																																																	0													102.0	95.0	98.0					2																	219874718		2200	4298	6498	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4398C>T	2.37:g.219874718G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.S1466	ENST00000341552.5	37	c.4398	CCDS2430.2	2																																																																																			CCDC108	-	superfamily_PapD-like	ENSG00000181378		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0.00	56	0	G	NM_194302		219874718	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.976	A
CCDC108	255101	genome.wustl.edu	37	2	219874718	219874718	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:219874718G>A	ENST00000341552.5	-	27	4481	c.4398C>T	c.(4396-4398)tcC>tcT	p.S1466S	CCDC108_ENST00000453220.1_Silent_p.S1466S|CCDC108_ENST00000441968.1_Silent_p.S1466S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1466						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTTCTTGGAGATGTTGT	0.542																																																	0													102.0	95.0	98.0					2																	219874718		2200	4298	6498	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4398C>T	2.37:g.219874718G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.S1466	ENST00000341552.5	37	c.4398	CCDS2430.2	2																																																																																			CCDC108	-	superfamily_PapD-like	ENSG00000181378		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0.00	58	0	G	NM_194302		219874718	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.976	A
CD300A	11314	genome.wustl.edu	37	17	72469708	72469708	+	Missense_Mutation	SNP	C	C	T	rs200229648	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469708C>T	ENST00000360141.3	+	2	362	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	25	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTG	0.567													C|||	4	0.000798722	0.003	0.0	5008	,	,		18446	0.0		0.0	False		,,,				2504	0.0																0								C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	62.0	68.0	66.0		74	-8.1	0.0	17		66	2,8598	3.0+/-9.4	0,2,4298	yes	missense	CD300A	NM_007261.2	64	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	25/300	72469708	5,13001	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.74C>T	17.37:g.72469708C>T	ENSP00000353259:p.Ala25Val		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A25V	ENST00000360141.3	37	c.74	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529967	0.27387	6.81E-4	2.33E-4	ENSG00000167851	ENST00000360141	T	0.64803	-0.12	4.06	-8.12	0.01078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.179790	0.00508	N	0.000172	T	0.36026	0.0952	L	0.27053	0.805	0.09310	N	0.999998	P	0.50617	0.937	B	0.35182	0.197	T	0.55296	-0.8163	10	0.36615	T	0.2	.	1.5693	0.02612	0.4704:0.1199:0.1873:0.2224	.	25	Q9UGN4	CLM8_HUMAN	V	25	ENSP00000353259:A25V	ENSP00000353259:A25V	A	+	2	0	CD300A	69981303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.215000	0.00272	-2.737000	0.00381	-0.681000	0.03757	GCG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.567	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0.00	31	0	C	NM_007261		72469708	+1	tier1	rs200229648	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	T
CD300A	11314	genome.wustl.edu	37	17	72469708	72469708	+	Missense_Mutation	SNP	C	C	T	rs200229648	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469708C>T	ENST00000360141.3	+	2	362	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	25	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTG	0.567													C|||	4	0.000798722	0.003	0.0	5008	,	,		18446	0.0		0.0	False		,,,				2504	0.0																0								C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	62.0	68.0	66.0		74	-8.1	0.0	17		66	2,8598	3.0+/-9.4	0,2,4298	yes	missense	CD300A	NM_007261.2	64	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	25/300	72469708	5,13001	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.74C>T	17.37:g.72469708C>T	ENSP00000353259:p.Ala25Val		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A25V	ENST00000360141.3	37	c.74	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529967	0.27387	6.81E-4	2.33E-4	ENSG00000167851	ENST00000360141	T	0.64803	-0.12	4.06	-8.12	0.01078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.179790	0.00508	N	0.000172	T	0.36026	0.0952	L	0.27053	0.805	0.09310	N	0.999998	P	0.50617	0.937	B	0.35182	0.197	T	0.55296	-0.8163	10	0.36615	T	0.2	.	1.5693	0.02612	0.4704:0.1199:0.1873:0.2224	.	25	Q9UGN4	CLM8_HUMAN	V	25	ENSP00000353259:A25V	ENSP00000353259:A25V	A	+	2	0	CD300A	69981303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.215000	0.00272	-2.737000	0.00381	-0.681000	0.03757	GCG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.567	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0.00	56	0	C	NM_007261		72469708	+1	tier1	rs200229648	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	T
CD300A	11314	genome.wustl.edu	37	17	72469942	72469942	+	Missense_Mutation	SNP	G	G	A	rs373168457		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469942G>A	ENST00000360141.3	+	2	596	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	103	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCTACTGGTGTGGGGTGGAT	0.572																																																	0								G	TYR/CYS	0,4406		0,0,2203	135.0	133.0	134.0		308	4.2	1.0	17		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300A	NM_007261.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	103/300	72469942	1,13005	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.308G>A	17.37:g.72469942G>A	ENSP00000353259:p.Cys103Tyr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C103Y	ENST00000360141.3	37	c.308	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222960	0.39300	0.0	1.16E-4	ENSG00000167851	ENST00000360141	T	0.35421	1.31	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268662	0.26407	N	0.024556	T	0.71796	0.3382	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81669	-0.0828	10	0.87932	D	0	.	12.8038	0.57601	0.0:0.0:1.0:0.0	.	103	Q9UGN4	CLM8_HUMAN	Y	103	ENSP00000353259:C103Y	ENSP00000353259:C103Y	C	+	2	0	CD300A	69981537	1.000000	0.71417	0.981000	0.43875	0.104000	0.19210	3.668000	0.54554	2.279000	0.76181	0.484000	0.47621	TGT	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.572	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0.00	44	0	G	NM_007261		72469942	+1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	26.47	50	18	SNP	0.997	A
CD300A	11314	genome.wustl.edu	37	17	72469942	72469942	+	Missense_Mutation	SNP	G	G	A	rs373168457		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72469942G>A	ENST00000360141.3	+	2	596	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	103	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCTACTGGTGTGGGGTGGAT	0.572																																																	0								G	TYR/CYS	0,4406		0,0,2203	135.0	133.0	134.0		308	4.2	1.0	17		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300A	NM_007261.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	103/300	72469942	1,13005	2203	4300	6503	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.308G>A	17.37:g.72469942G>A	ENSP00000353259:p.Cys103Tyr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C103Y	ENST00000360141.3	37	c.308	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222960	0.39300	0.0	1.16E-4	ENSG00000167851	ENST00000360141	T	0.35421	1.31	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268662	0.26407	N	0.024556	T	0.71796	0.3382	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81669	-0.0828	10	0.87932	D	0	.	12.8038	0.57601	0.0:0.0:1.0:0.0	.	103	Q9UGN4	CLM8_HUMAN	Y	103	ENSP00000353259:C103Y	ENSP00000353259:C103Y	C	+	2	0	CD300A	69981537	1.000000	0.71417	0.981000	0.43875	0.104000	0.19210	3.668000	0.54554	2.279000	0.76181	0.484000	0.47621	TGT	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167851		0.572	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0.00	79	0	G	NM_007261		72469942	+1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	26.47	50	18	SNP	0.997	A
CD93	22918	genome.wustl.edu	37	20	23066727	23066727	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:23066727C>T	ENST00000246006.4	-	1	250	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	35	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.A35T(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTAGCAGGCGGTCCCCACG	0.697																																																	1	Substitution - Missense(1)	large_intestine(1)											23.0	21.0	22.0					20																	23066727		2198	4292	6490	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.103G>A	20.37:g.23066727C>T	ENSP00000246006:p.Ala35Thr		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A35T	ENST00000246006.4	37	c.103	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451493	0.84209	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.81415	-1.49	5.36	5.36	0.76844	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.53938	D	0.000060	D	0.87826	0.6275	L	0.53617	1.68	0.54753	D	0.999981	D	0.89917	1.0	D	0.77557	0.99	D	0.88258	0.2921	10	0.72032	D	0.01	-42.5514	18.2557	0.90019	0.0:1.0:0.0:0.0	.	35	Q9NPY3	C1QR1_HUMAN	T	35	ENSP00000246006:A35T	ENSP00000246006:A35T	A	-	1	0	CD93	23014727	1.000000	0.71417	0.965000	0.40720	0.335000	0.28730	4.982000	0.63825	2.774000	0.95407	0.655000	0.94253	GCC	CD93	-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.697	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0.00	37	0	C	NM_012072		23066727	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
CDC27	996	genome.wustl.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																																	2	Substitution - coding silent(2)	large_intestine(2)											36.0	40.0	39.0					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V539	ENST00000066544.3	37	c.1617	CCDS11509.1	17																																																																																			CDC27	-	pfscan_TPR-contain_dom	ENSG00000004897		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0.00	51	0	A			45216210	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.877	C
CDH2	1000	genome.wustl.edu	37	18	25532209	25532209	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:25532209T>G	ENST00000269141.3	-	16	3052	c.2629A>C	c.(2629-2631)Agt>Cgt	p.S877R	CDH2_ENST00000399380.3_Missense_Mutation_p.S846R|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	877	Ser-rich.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCACCACTACTTGAGGAATTA	0.507											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													119.0	112.0	114.0					18																	25532209		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2629A>C	18.37:g.25532209T>G	ENSP00000269141:p.Ser877Arg	779	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.S877R	ENST00000269141.3	37	c.2629	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262771	0.59431	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.80033	-1.33;-1.33	5.67	5.67	0.87782	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90580	0.7047	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.91875	0.5511	10	0.66056	D	0.02	.	15.916	0.79517	0.0:0.0:0.0:1.0	.	846;877	A8MWK3;P19022	.;CADH2_HUMAN	R	877;846	ENSP00000269141:S877R;ENSP00000382312:S846R	ENSP00000269141:S877R	S	-	1	0	CDH2	23786207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.198000	0.72106	2.164000	0.68074	0.482000	0.46254	AGT	CDH2	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000170558		0.507	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0.00	65	0	T	NM_001792		25532209	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	G
CDH8	1006	genome.wustl.edu	37	16	61854976	61854976	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:61854976T>C	ENST00000577390.1	-	6	1831	c.877A>G	c.(877-879)Act>Gct	p.T293A	CDH8_ENST00000577730.1_Missense_Mutation_p.T293A|CDH8_ENST00000584337.1_Missense_Mutation_p.T293A|CDH8_ENST00000299345.6_Missense_Mutation_p.T293A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTATTGCAGTGCCAAGAACC	0.398																																																	0													127.0	96.0	106.0					16																	61854976		2203	4300	6503	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.877A>G	16.37:g.61854976T>C	ENSP00000462701:p.Thr293Ala		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T293A	ENST00000577390.1	37	c.877	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755424	0.49362	.	.	ENSG00000150394	ENST00000299345	T	0.02709	4.19	5.96	4.88	0.63580	Cadherin (3);Cadherin-like (1);	0.207633	0.53938	D	0.000054	T	0.03739	0.0106	L	0.58428	1.81	0.32972	D	0.522539	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.05209	-1.0899	10	0.66056	D	0.02	.	4.8391	0.13481	0.0:0.2524:0.0:0.7476	.	109;293	Q3LID3;P55286	.;CADH8_HUMAN	A	293	ENSP00000299345:T293A	ENSP00000299345:T293A	T	-	1	0	CDH8	60412477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.700000	0.47085	2.284000	0.76573	0.528000	0.53228	ACT	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150394		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0.00	60	0	T	NM_001796		61854976	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	C
CDH8	1006	genome.wustl.edu	37	16	61854976	61854976	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:61854976T>C	ENST00000577390.1	-	6	1831	c.877A>G	c.(877-879)Act>Gct	p.T293A	CDH8_ENST00000577730.1_Missense_Mutation_p.T293A|CDH8_ENST00000584337.1_Missense_Mutation_p.T293A|CDH8_ENST00000299345.6_Missense_Mutation_p.T293A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTATTGCAGTGCCAAGAACC	0.398																																																	0													127.0	96.0	106.0					16																	61854976		2203	4300	6503	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.877A>G	16.37:g.61854976T>C	ENSP00000462701:p.Thr293Ala		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T293A	ENST00000577390.1	37	c.877	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755424	0.49362	.	.	ENSG00000150394	ENST00000299345	T	0.02709	4.19	5.96	4.88	0.63580	Cadherin (3);Cadherin-like (1);	0.207633	0.53938	D	0.000054	T	0.03739	0.0106	L	0.58428	1.81	0.32972	D	0.522539	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.05209	-1.0899	10	0.66056	D	0.02	.	4.8391	0.13481	0.0:0.2524:0.0:0.7476	.	109;293	Q3LID3;P55286	.;CADH8_HUMAN	A	293	ENSP00000299345:T293A	ENSP00000299345:T293A	T	-	1	0	CDH8	60412477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.700000	0.47085	2.284000	0.76573	0.528000	0.53228	ACT	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150394		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0.00	64	0	T	NM_001796		61854976	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	C
CDH9	1007	genome.wustl.edu	37	5	26915774	26915774	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:26915774A>C	ENST00000231021.4	-	3	659	c.487T>G	c.(487-489)Tta>Gta	p.L163V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L163V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAGTGTATAAGTCTTTTGTA	0.353																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											82.0	82.0	82.0					5																	26915774		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.487T>G	5.37:g.26915774A>C	ENSP00000231021:p.Leu163Val		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L163V	ENST00000231021.4	37	c.487	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417066	0.25552	.	.	ENSG00000113100	ENST00000231021	T	0.60171	0.21	4.62	-1.42	0.08913	Cadherin (3);Cadherin-like (1);	0.751165	0.12175	N	0.492656	T	0.27697	0.0681	N	0.04162	-0.26	0.21220	N	0.999757	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	.	.	.	.	7.2222	0.25994	0.2541:0.5634:0.1824:0.0	.	163	Q9ULB4	CADH9_HUMAN	V	163	ENSP00000231021:L163V	.	L	-	1	2	CDH9	26951531	0.000000	0.05858	0.980000	0.43619	0.999000	0.98932	-0.540000	0.06106	-0.065000	0.13021	0.528000	0.53228	TTA	CDH9	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0.00	23	0	A	NM_016279		26915774	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.355	C
CDH9	1007	genome.wustl.edu	37	5	26915774	26915774	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:26915774A>C	ENST00000231021.4	-	3	659	c.487T>G	c.(487-489)Tta>Gta	p.L163V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L163V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAGTGTATAAGTCTTTTGTA	0.353																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											82.0	82.0	82.0					5																	26915774		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.487T>G	5.37:g.26915774A>C	ENSP00000231021:p.Leu163Val		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L163V	ENST00000231021.4	37	c.487	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417066	0.25552	.	.	ENSG00000113100	ENST00000231021	T	0.60171	0.21	4.62	-1.42	0.08913	Cadherin (3);Cadherin-like (1);	0.751165	0.12175	N	0.492656	T	0.27697	0.0681	N	0.04162	-0.26	0.21220	N	0.999757	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	.	.	.	.	7.2222	0.25994	0.2541:0.5634:0.1824:0.0	.	163	Q9ULB4	CADH9_HUMAN	V	163	ENSP00000231021:L163V	.	L	-	1	2	CDH9	26951531	0.000000	0.05858	0.980000	0.43619	0.999000	0.98932	-0.540000	0.06106	-0.065000	0.13021	0.528000	0.53228	TTA	CDH9	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0.00	35	0	A	NM_016279		26915774	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.355	C
CDR1	1038	genome.wustl.edu	37	X	139866465	139866465	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:139866465C>T	ENST00000370532.2	-	1	258	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	23	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAACAAAGGT	0.428																																																	0													183.0	173.0	177.0					X																	139866465		2203	4300	6503	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.67G>A	X.37:g.139866465C>T	ENSP00000359563:p.Glu23Lys		Q5JXH6	Missense_Mutation	SNP	NULL	p.E23K	ENST00000370532.2	37	c.67	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528402	0.44969	.	.	ENSG00000184258	ENST00000370532	T	0.37411	1.2	3.32	1.41	0.22369	.	.	.	.	.	T	0.21307	0.0513	L	0.32530	0.975	0.29382	N	0.863262	P	0.37101	0.582	B	0.31614	0.133	T	0.12915	-1.0529	8	.	.	.	.	5.9711	0.19353	0.0:0.683:0.1918:0.1252	.	23	P51861	CDR1_HUMAN	K	23	ENSP00000359563:E23K	.	E	-	1	0	CDR1	139694131	0.001000	0.12720	0.022000	0.16811	0.002000	0.02628	0.505000	0.22642	0.078000	0.16900	-0.516000	0.04426	GAA	CDR1	-	NULL	ENSG00000184258		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	-	0.00	51	0	C	NM_004065		139866465	-1	tier1	-	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.853	T
CDR1	1038	genome.wustl.edu	37	X	139866465	139866465	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:139866465C>T	ENST00000370532.2	-	1	258	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	23	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAACAAAGGT	0.428																																																	0													183.0	173.0	177.0					X																	139866465		2203	4300	6503	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.67G>A	X.37:g.139866465C>T	ENSP00000359563:p.Glu23Lys		Q5JXH6	Missense_Mutation	SNP	NULL	p.E23K	ENST00000370532.2	37	c.67	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528402	0.44969	.	.	ENSG00000184258	ENST00000370532	T	0.37411	1.2	3.32	1.41	0.22369	.	.	.	.	.	T	0.21307	0.0513	L	0.32530	0.975	0.29382	N	0.863262	P	0.37101	0.582	B	0.31614	0.133	T	0.12915	-1.0529	8	.	.	.	.	5.9711	0.19353	0.0:0.683:0.1918:0.1252	.	23	P51861	CDR1_HUMAN	K	23	ENSP00000359563:E23K	.	E	-	1	0	CDR1	139694131	0.001000	0.12720	0.022000	0.16811	0.002000	0.02628	0.505000	0.22642	0.078000	0.16900	-0.516000	0.04426	GAA	CDR1	-	NULL	ENSG00000184258		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	-	0.00	53	0	C	NM_004065		139866465	-1	tier1	-	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.853	T
CDR2	1039	genome.wustl.edu	37	16	22358784	22358784	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:22358784G>A	ENST00000268383.2	-	5	1174	c.867C>T	c.(865-867)agC>agT	p.S289S		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	289						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTCCAGCAGGCTCTGGCTGG	0.522																																																	0													37.0	37.0	37.0					16																	22358784		2197	4300	6497	SO:0001819	synonymous_variant	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.867C>T	16.37:g.22358784G>A			A8K8A8|Q13977	Silent	SNP	NULL	p.S289	ENST00000268383.2	37	c.867	CCDS32404.1	16																																																																																			CDR2	-	NULL	ENSG00000140743		0.522	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1		0.00	91	0	G			22358784	-1			no_errors	ENST00000268383	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.998	A
CELF2	10659	genome.wustl.edu	37	10	11330403	11330403	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:11330403G>A	ENST00000379261.4	+	9	935	c.843G>A	c.(841-843)caG>caA	p.Q281Q	CELF2_ENST00000427450.1_Silent_p.Q257Q|CELF2_ENST00000315874.4_Silent_p.Q257Q|CELF2_ENST00000450189.1_Silent_p.Q288Q|CELF2_ENST00000399850.3_Silent_p.Q257Q|CELF2_ENST00000609692.1_Silent_p.Q257Q|CELF2_ENST00000417956.2_Silent_p.Q257Q|CELF2_ENST00000542579.1_Silent_p.Q288Q|CELF2_ENST00000537122.1_Silent_p.Q170Q|CELF2_ENST00000608830.1_Silent_p.Q257Q|CELF2_ENST00000416382.2_Silent_p.Q281Q|CELF2_ENST00000354440.2_Silent_p.Q257Q|CELF2_ENST00000354897.3_Silent_p.Q257Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	281	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TACAGTTGCAGAACCTGGCGA	0.562																																																	0													49.0	51.0	50.0					10																	11330403		2015	4181	6196	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.843G>A	10.37:g.11330403G>A			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.Q288	ENST00000379261.4	37	c.864	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.562	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0.00	28	0	G			11330403	+1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	A
CENPO	79172	genome.wustl.edu	37	2	25016736	25016736	+	5'UTR	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:25016736C>G	ENST00000380834.2	+	0	373				PTRHD1_ENST00000328379.5_5'Flank|PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000473706.1_Intron|CENPO_ENST00000260662.1_5'UTR			Q9BU64	CENPO_HUMAN	centromere protein O						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACATTGGAGTCCCTATCACCG	0.512																																																	0													42.0	38.0	39.0					2																	25016736		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.-53C>G	2.37:g.25016736C>G			B2RDC0|D6W536|Q53T55|Q96JV3	RNA	SNP	-	NULL	ENST00000380834.2	37	NULL	CCDS1714.1	2																																																																																			CENPO	-	-	ENSG00000138092		0.512	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	-	0.00	114	0	C	NM_024322		25016736	+1	tier1	-	no_errors	ENST00000473476	ensembl	human	putative	74_37	rna	6.80	95	7	SNP	0.000	G
CENPO	79172	genome.wustl.edu	37	2	25016736	25016736	+	5'UTR	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:25016736C>G	ENST00000380834.2	+	0	373				PTRHD1_ENST00000328379.5_5'Flank|PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000473706.1_Intron|CENPO_ENST00000260662.1_5'UTR			Q9BU64	CENPO_HUMAN	centromere protein O						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACATTGGAGTCCCTATCACCG	0.512																																																	0													42.0	38.0	39.0					2																	25016736		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.-53C>G	2.37:g.25016736C>G			B2RDC0|D6W536|Q53T55|Q96JV3	RNA	SNP	-	NULL	ENST00000380834.2	37	NULL	CCDS1714.1	2																																																																																			CENPO	-	-	ENSG00000138092		0.512	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	-	0.00	90	0	C	NM_024322		25016736	+1	tier1	-	no_errors	ENST00000473476	ensembl	human	putative	74_37	rna	6.80	95	7	SNP	0.000	G
CEP135	9662	genome.wustl.edu	37	4	56884024	56884024	+	Splice_Site	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:56884024G>C	ENST00000257287.4	+	22	3136		c.e22+1			NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa						centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GTTTGAGAGGGTAAGAAAGAT	0.328																																																	0													32.0	34.0	33.0					4																	56884024		2203	4300	6503	SO:0001630	splice_region_variant	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3012+1G>C	4.37:g.56884024G>C			B2RMY0|O75130|Q58F25|Q9H8H7	Splice_Site	SNP	-	e21+1	ENST00000257287.4	37	c.3012+1	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386166	0.82902	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP135	56578781	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.313000	0.96297	2.677000	0.91161	0.655000	0.94253	.	CEP135	-	-	ENSG00000174799		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	-	0.00	13	0	G	NM_025009	Intron	56884024	+1	tier1	-	no_errors	ENST00000257287	ensembl	human	known	74_37	splice_site	25.00	24	8	SNP	1.000	C
CES4A	283848	genome.wustl.edu	37	16	67039242	67039242	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:67039242G>T	ENST00000326686.5	+	11	1261	c.1261G>T	c.(1261-1263)Gtt>Ttt	p.V421F	CES4A_ENST00000540947.2_Missense_Mutation_p.V421F|CES4A_ENST00000540579.1_Missense_Mutation_p.V323F|CES4A_ENST00000535696.1_Missense_Mutation_p.V327F|CES4A_ENST00000398354.1_Missense_Mutation_p.V394F|CES4A_ENST00000541479.1_Missense_Mutation_p.V417F|CES4A_ENST00000338718.4_Missense_Mutation_p.V444F			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	421						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GATGGACATAGTTCAAGATGC	0.527																																																	0													130.0	134.0	133.0					16																	67039242		2119	4240	6359	SO:0001583	missense	0			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1261G>T	16.37:g.67039242G>T	ENSP00000314145:p.Val421Phe		A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V421F	ENST00000326686.5	37	c.1261		16	.	.	.	.	.	.	.	.	.	.	g	10.76	1.441255	0.25900	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.67698	-0.28;0.29;-0.28;0.29;3.16;0.29;3.16;-0.28	4.06	2.02	0.26589	Carboxylesterase, type B (1);	0.703509	0.11591	N	0.548711	T	0.44829	0.1312	N	0.10916	0.065	0.26478	N	0.97517	P;P;B;B	0.39157	0.662;0.662;0.002;0.083	B;B;B;B	0.36092	0.217;0.169;0.017;0.028	T	0.28964	-1.0027	10	0.52906	T	0.07	.	8.8377	0.35121	0.1943:0.0:0.8057:0.0	.	327;444;421;417	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	F	421;417;444;394;421;357;323;327	ENSP00000444052:V421F;ENSP00000443175:V417F;ENSP00000340714:V444F;ENSP00000381397:V394F;ENSP00000314145:V421F;ENSP00000441103:V357F;ENSP00000441907:V323F;ENSP00000441644:V327F	ENSP00000314145:V421F	V	+	1	0	CES4A	65596743	0.003000	0.15002	0.019000	0.16419	0.061000	0.15899	0.688000	0.25422	0.450000	0.26774	-0.342000	0.07992	GTT	CES4A	-	pfam_CarbesteraseB	ENSG00000172824		0.527	CES4A-201	KNOWN	basic|appris_principal	protein_coding	CES4A	HGNC	protein_coding		-	0.00	72	0	G	NM_173815		67039242	+1	tier1	-	no_errors	ENST00000326686	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.921	T
CHST1	8534	genome.wustl.edu	37	11	45670506	45670507	+	3'UTR	INS	-	-	T	rs199768059		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:45670506_45670507insT	ENST00000308064.2	-	0	2637_2638				CHST1_ENST00000533673.1_5'UTR|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTGATCCACTCTTTTTTTTTCT	0.386																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.*732->A	11.37:g.45670515_45670515dupT			D3DQP2	RNA	INS	-	NULL	ENST00000308064.2	37	NULL	CCDS7913.1	11																																																																																			CHST1	-	-	ENSG00000175264		0.386	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1		0.00	43	0	-	NM_003654		45670507	-1	tier1		no_errors	ENST00000533673	ensembl	human	known	74_37	rna	14.29	30	5	INS	0.924:0.922	T
CHST2	9435	genome.wustl.edu	37	3	142840240	142840240	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:142840240C>T	ENST00000309575.3	+	2	1966	c.582C>T	c.(580-582)taC>taT	p.Y194Y		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	194					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCTTTCTCTACGAGCCAGTGT	0.602																																																	0													59.0	74.0	69.0					3																	142840240		2198	4299	6497	SO:0001819	synonymous_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.582C>T	3.37:g.142840240C>T			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.Y194	ENST00000309575.3	37	c.582	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	-	0.00	71	0	C	NM_004267		142840240	+1	tier1	-	no_errors	ENST00000309575	ensembl	human	known	74_37	silent	19.72	55	14	SNP	0.998	T
CHST2	9435	genome.wustl.edu	37	3	142840240	142840240	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:142840240C>T	ENST00000309575.3	+	2	1966	c.582C>T	c.(580-582)taC>taT	p.Y194Y		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	194					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCTTTCTCTACGAGCCAGTGT	0.602																																																	0													59.0	74.0	69.0					3																	142840240		2198	4299	6497	SO:0001819	synonymous_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.582C>T	3.37:g.142840240C>T			D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.Y194	ENST00000309575.3	37	c.582	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	-	0.00	77	0	C	NM_004267		142840240	+1	tier1	-	no_errors	ENST00000309575	ensembl	human	known	74_37	silent	19.72	55	14	SNP	0.998	T
CNTD2	79935	genome.wustl.edu	37	19	40729351	40729351	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40729351G>C	ENST00000430325.2	-	4	664	c.616C>G	c.(616-618)Ccc>Gcc	p.P206A	CNTD2_ENST00000513948.1_Missense_Mutation_p.P100A	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	206					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGCGGGCCGGGGTGGTGCAGC	0.736																																																	0													7.0	11.0	10.0					19																	40729351		683	1579	2262	SO:0001583	missense	0			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.616C>G	19.37:g.40729351G>C	ENSP00000396755:p.Pro206Ala		B4DX65	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.P206A	ENST00000430325.2	37	c.616	CCDS12551.2	19	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199218	0.38806	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.50548	0.74;1.07	4.02	1.71	0.24356	.	.	.	.	.	T	0.33381	0.0861	N	0.24115	0.695	0.18873	N	0.999988	P	0.34724	0.465	B	0.36186	0.219	T	0.25779	-1.0122	9	0.66056	D	0.02	.	8.2906	0.31954	0.2057:0.0:0.7943:0.0	.	206	B4DX65	.	A	206;100	ENSP00000396755:P206A;ENSP00000425529:P100A	ENSP00000396755:P206A	P	-	1	0	CNTD2	45421191	0.945000	0.32115	0.155000	0.22561	0.145000	0.21501	1.035000	0.30216	0.872000	0.35775	0.561000	0.74099	CCC	CNTD2	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.736	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1		0.00	66	0	G	NM_024877		40729351	-1			no_errors	ENST00000430325	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.133	C
CNTN5	53942	genome.wustl.edu	37	11	100126539	100126539	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:100126539A>C	ENST00000524871.1	+	17	2343	c.2053A>C	c.(2053-2055)Agt>Cgt	p.S685R	CNTN5_ENST00000279463.3_Missense_Mutation_p.S685R|CNTN5_ENST00000528682.1_Missense_Mutation_p.S685R|CNTN5_ENST00000527185.1_Missense_Mutation_p.S685R|CNTN5_ENST00000418526.2_Missense_Mutation_p.S611R|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	685	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATAACCGAAAGTACGGCCAC	0.507																																																	0													104.0	116.0	112.0					11																	100126539		2003	4191	6194	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2053A>C	11.37:g.100126539A>C	ENSP00000435637:p.Ser685Arg		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S685R	ENST00000524871.1	37	c.2053	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900152	0.33535	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.474485	0.26711	N	0.022890	T	0.48624	0.1510	N	0.13043	0.29	0.36604	D	0.874838	B;B	0.33318	0.178;0.408	B;B	0.40285	0.067;0.325	T	0.61992	-0.6948	10	0.87932	D	0	.	15.1379	0.72583	1.0:0.0:0.0:0.0	.	611;685	O94779-2;O94779	.;CNTN5_HUMAN	R	685;685;685;611;685	ENSP00000433575:S685R;ENSP00000436185:S685R;ENSP00000435637:S685R;ENSP00000393229:S611R;ENSP00000279463:S685R	ENSP00000279463:S685R	S	+	1	0	CNTN5	99631749	0.350000	0.24878	0.991000	0.47740	0.282000	0.26991	4.838000	0.62803	2.174000	0.68829	0.533000	0.62120	AGT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.507	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	102	0	A	NM_014361		100126539	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.888	C
CNTNAP5	129684	genome.wustl.edu	37	2	125192143	125192143	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:125192143G>A	ENST00000431078.1	+	5	976	c.612G>A	c.(610-612)gtG>gtA	p.V204V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAAAGATGTGATCTCCCTGA	0.493																																																	0													119.0	116.0	117.0					2																	125192143		2033	4209	6242	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.612G>A	2.37:g.125192143G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V204	ENST00000431078.1	37	c.612	CCDS46401.1	2																																																																																			CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3		0.00	45	0	G			125192143	+1			no_errors	ENST00000431078	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.993	A
COL24A1	255631	genome.wustl.edu	37	1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428																																																	0													62.0	58.0	59.0					1																	86591748		1852	4094	5946	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.271G>A	1.37:g.86591748C>T	ENSP00000359603:p.Glu91Lys		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E91K	ENST00000370571.2	37	c.271	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056829	0.19907	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.40222	N	0.001154	T	0.03959	0.0111	L	0.55990	1.75	0.50467	D	0.999875	D;P	0.64830	0.994;0.906	P;B	0.53313	0.723;0.154	T	0.56092	-0.8036	10	0.39692	T	0.17	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	91;91	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	91	ENSP00000359603:E91K;ENSP00000392531:E91K	ENSP00000359603:E91K	E	-	1	0	COL24A1	86364336	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.642000	0.67888	2.751000	0.94390	0.655000	0.94253	GAG	COL24A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000171502		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0.00	33	0	C	NM_152890		86591748	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	T
COL24A1	255631	genome.wustl.edu	37	1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428																																																	0													62.0	58.0	59.0					1																	86591748		1852	4094	5946	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.271G>A	1.37:g.86591748C>T	ENSP00000359603:p.Glu91Lys		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E91K	ENST00000370571.2	37	c.271	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056829	0.19907	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.40222	N	0.001154	T	0.03959	0.0111	L	0.55990	1.75	0.50467	D	0.999875	D;P	0.64830	0.994;0.906	P;B	0.53313	0.723;0.154	T	0.56092	-0.8036	10	0.39692	T	0.17	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	91;91	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	91	ENSP00000359603:E91K;ENSP00000392531:E91K	ENSP00000359603:E91K	E	-	1	0	COL24A1	86364336	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.642000	0.67888	2.751000	0.94390	0.655000	0.94253	GAG	COL24A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000171502		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0.00	55	0	C	NM_152890		86591748	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	T
COL6A2	1292	genome.wustl.edu	37	21	47536710	47536710	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:47536710C>T	ENST00000300527.4	+	10	1085	c.981C>T	c.(979-981)aaC>aaT	p.N327N	COL6A2_ENST00000310645.5_Silent_p.N327N|COL6A2_ENST00000397763.1_Silent_p.N327N|COL6A2_ENST00000409416.1_Silent_p.N327N|COL6A2_ENST00000357838.4_Silent_p.N327N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	327	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCAAGAACGGGACCGATG	0.637																																																	0													40.0	44.0	42.0					21																	47536710		2203	4300	6503	SO:0001819	synonymous_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.981C>T	21.37:g.47536710C>T			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.N327	ENST00000300527.4	37	c.981	CCDS13728.1	21																																																																																			COL6A2	-	pfam_Collagen	ENSG00000142173		0.637	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0.00	84	0	C			47536710	+1	tier1	rs147326531	no_errors	ENST00000300527	ensembl	human	known	74_37	silent	8.54	75	7	SNP	0.126	T
COL6A3	1293	genome.wustl.edu	37	2	238275718	238275718	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238275718G>A	ENST00000295550.4	-	11	5564	c.5112C>T	c.(5110-5112)gaC>gaT	p.D1704D	COL6A3_ENST00000346358.4_Silent_p.D1504D|COL6A3_ENST00000472056.1_Silent_p.D1097D|COL6A3_ENST00000347401.3_Silent_p.D1503D|COL6A3_ENST00000409809.1_Silent_p.D1498D|COL6A3_ENST00000353578.4_Silent_p.D1498D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1704	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTGATGGCGTCAATAATCT	0.532																																																	0													90.0	74.0	79.0					2																	238275718		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5112C>T	2.37:g.238275718G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1704	ENST00000295550.4	37	c.5112	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0.00	64	0	G	NM_004369		238275718	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	7.35	63	5	SNP	0.039	A
COL6A3	1293	genome.wustl.edu	37	2	238275718	238275718	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238275718G>A	ENST00000295550.4	-	11	5564	c.5112C>T	c.(5110-5112)gaC>gaT	p.D1704D	COL6A3_ENST00000346358.4_Silent_p.D1504D|COL6A3_ENST00000472056.1_Silent_p.D1097D|COL6A3_ENST00000347401.3_Silent_p.D1503D|COL6A3_ENST00000409809.1_Silent_p.D1498D|COL6A3_ENST00000353578.4_Silent_p.D1498D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1704	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTGATGGCGTCAATAATCT	0.532																																																	0													90.0	74.0	79.0					2																	238275718		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5112C>T	2.37:g.238275718G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1704	ENST00000295550.4	37	c.5112	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0.00	82	0	G	NM_004369		238275718	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	7.35	63	5	SNP	0.039	A
CPB1	1360	genome.wustl.edu	37	3	148552396	148552396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:148552396G>T	ENST00000491148.1	+	4	593	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.E87*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	87						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGCAGAATGAACTACAATA	0.363																																																	0													87.0	83.0	84.0					3																	148552396		2203	4299	6502	SO:0001587	stop_gained	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.259G>T	3.37:g.148552396G>T	ENSP00000417222:p.Glu87*		O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E87*	ENST00000491148.1	37	c.259	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	G	8.895	0.954984	0.18431	.	.	ENSG00000153002	ENST00000491148;ENST00000462345;ENST00000282957;ENST00000468341	.	.	.	5.17	3.39	0.38822	.	0.774897	0.12953	N	0.425711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7869	0.40681	0.2831:0.0:0.7169:0.0	.	.	.	.	X	87	.	ENSP00000282957:E87X	E	+	1	0	CPB1	150035086	1.000000	0.71417	0.149000	0.22428	0.036000	0.12997	3.137000	0.50562	0.583000	0.29574	-0.373000	0.07131	GAA	CPB1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000153002		0.363	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1		0.00	61	0	G	NM_001871		148552396	+1			no_errors	ENST00000282957	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.325	T
CPS1	1373	genome.wustl.edu	37	2	211447374	211447374	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:211447374C>A	ENST00000233072.5	+	6	758	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	CPS1_ENST00000430249.2_Missense_Mutation_p.Q194K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	188	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.Q194K(1)|p.Q188K(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTTGAAGGTCAGCCTGTGGA	0.348																																																	2	Substitution - Missense(2)	lung(2)											146.0	146.0	146.0					2																	211447374		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.562C>A	2.37:g.211447374C>A	ENSP00000233072:p.Gln188Lys		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.Q194K	ENST00000233072.5	37	c.580	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824201	0.32237	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.93811	-3.29;-3.29	5.67	5.67	0.87782	Carbamoyl-phosphate synthase, small subunit, N-terminal (2);	0.053817	0.85682	D	0.000000	D	0.87799	0.6268	L	0.35414	1.06	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.82076	-0.0636	10	0.07644	T	0.81	5.0499	14.5851	0.68317	0.146:0.854:0.0:0.0	.	198;188	Q59HF8;P31327	.;CPSM_HUMAN	K	194;196;188;188	ENSP00000402608:Q194K;ENSP00000233072:Q188K	ENSP00000233072:Q188K	Q	+	1	0	CPS1	211155619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	2.670000	0.90874	0.655000	0.94253	CAG	CPS1	-	superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	ENSG00000021826		0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0.00	79	0	C			211447374	+1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	A
CPS1	1373	genome.wustl.edu	37	2	211447374	211447374	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:211447374C>A	ENST00000233072.5	+	6	758	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	CPS1_ENST00000430249.2_Missense_Mutation_p.Q194K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	188	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.Q194K(1)|p.Q188K(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTTGAAGGTCAGCCTGTGGA	0.348																																																	2	Substitution - Missense(2)	lung(2)											146.0	146.0	146.0					2																	211447374		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.562C>A	2.37:g.211447374C>A	ENSP00000233072:p.Gln188Lys		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.Q194K	ENST00000233072.5	37	c.580	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824201	0.32237	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.93811	-3.29;-3.29	5.67	5.67	0.87782	Carbamoyl-phosphate synthase, small subunit, N-terminal (2);	0.053817	0.85682	D	0.000000	D	0.87799	0.6268	L	0.35414	1.06	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.82076	-0.0636	10	0.07644	T	0.81	5.0499	14.5851	0.68317	0.146:0.854:0.0:0.0	.	198;188	Q59HF8;P31327	.;CPSM_HUMAN	K	194;196;188;188	ENSP00000402608:Q194K;ENSP00000233072:Q188K	ENSP00000233072:Q188K	Q	+	1	0	CPS1	211155619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	2.670000	0.90874	0.655000	0.94253	CAG	CPS1	-	superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	ENSG00000021826		0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0.00	98	0	C			211447374	+1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	A
CRYBB1	1414	genome.wustl.edu	37	22	27012261	27012261	+	Missense_Mutation	SNP	G	G	A	rs374176492		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:27012261G>A	ENST00000215939.2	-	2	153	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	8	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGCCGAGGCCGAGGCCTTTGC	0.627																																																	0								G	LEU/SER	0,4406		0,0,2203	48.0	47.0	47.0		23	3.0	0.0	22		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRYBB1	NM_001887.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	8/253	27012261	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.23C>T	22.37:g.27012261G>A	ENSP00000215939:p.Ser8Leu			Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S8L	ENST00000215939.2	37	c.23	CCDS13840.1	22	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847674	0.32606	0.0	1.16E-4	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	3.98	2.96	0.34315	.	12.334900	0.02564	U	0.097041	T	0.59622	0.2207	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52351	-0.8587	10	0.72032	D	0.01	.	8.714	0.34401	0.1103:0.0:0.8897:0.0	.	8	P53674	CRBB1_HUMAN	L	8	ENSP00000215939:S8L	ENSP00000215939:S8L	S	-	2	0	CRYBB1	25342261	0.155000	0.22806	0.040000	0.18447	0.437000	0.31866	2.500000	0.45381	1.020000	0.39573	0.430000	0.28490	TCG	CRYBB1	-	NULL	ENSG00000100122		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1	-	0.00	69	0	G	NM_001887		27012261	-1	tier1	-	no_errors	ENST00000215939	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.096	A
CSMD3	114788	genome.wustl.edu	37	8	113249500	113249500	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:113249500A>C	ENST00000297405.5	-	67	10790	c.10546T>G	c.(10546-10548)Tta>Gta	p.L3516V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3347V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3446V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3476V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3516						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAACTGTTAAGGTCATGGGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													213.0	192.0	199.0					8																	113249500		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10546T>G	8.37:g.113249500A>C	ENSP00000297405:p.Leu3516Val		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L3516V	ENST00000297405.5	37	c.10546	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815551	0.50527	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36340	1.61;1.61;1.66;1.26;1.64	4.87	1.15	0.20763	.	0.000000	0.56097	D	0.000034	T	0.30823	0.0777	L	0.60455	1.87	0.32414	N	0.550231	P;P;B	0.47545	0.897;0.732;0.178	B;B;B	0.42916	0.402;0.154;0.108	T	0.40232	-0.9574	10	0.54805	T	0.06	.	5.208	0.15300	0.7213:0.0:0.1465:0.1322	.	3347;3516;3476	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3476;3516;2786;3347;3446	ENSP00000345799:L3476V;ENSP00000297405:L3516V;ENSP00000341558:L2786V;ENSP00000412263:L3347V;ENSP00000343124:L3446V	ENSP00000297405:L3516V	L	-	1	2	CSMD3	113318676	0.764000	0.28473	0.892000	0.35008	0.774000	0.43823	1.290000	0.33319	0.043000	0.15746	-0.691000	0.03719	TTA	CSMD3	-	NULL	ENSG00000164796		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	70	0	A	NM_052900		113249500	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	11.76	75	10	SNP	0.950	C
CSMD3	114788	genome.wustl.edu	37	8	113249500	113249500	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:113249500A>C	ENST00000297405.5	-	67	10790	c.10546T>G	c.(10546-10548)Tta>Gta	p.L3516V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3347V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3446V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3476V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3516						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAACTGTTAAGGTCATGGGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													213.0	192.0	199.0					8																	113249500		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10546T>G	8.37:g.113249500A>C	ENSP00000297405:p.Leu3516Val		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L3516V	ENST00000297405.5	37	c.10546	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815551	0.50527	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36340	1.61;1.61;1.66;1.26;1.64	4.87	1.15	0.20763	.	0.000000	0.56097	D	0.000034	T	0.30823	0.0777	L	0.60455	1.87	0.32414	N	0.550231	P;P;B	0.47545	0.897;0.732;0.178	B;B;B	0.42916	0.402;0.154;0.108	T	0.40232	-0.9574	10	0.54805	T	0.06	.	5.208	0.15300	0.7213:0.0:0.1465:0.1322	.	3347;3516;3476	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3476;3516;2786;3347;3446	ENSP00000345799:L3476V;ENSP00000297405:L3516V;ENSP00000341558:L2786V;ENSP00000412263:L3347V;ENSP00000343124:L3446V	ENSP00000297405:L3516V	L	-	1	2	CSMD3	113318676	0.764000	0.28473	0.892000	0.35008	0.774000	0.43823	1.290000	0.33319	0.043000	0.15746	-0.691000	0.03719	TTA	CSMD3	-	NULL	ENSG00000164796		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	92	0	A	NM_052900		113249500	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	11.76	75	10	SNP	0.950	C
CST1	1469	genome.wustl.edu	37	20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:23729656C>G	ENST00000304749.2	-	2	409	c.339G>C	c.(337-339)caG>caC	p.Q113H	CST1_ENST00000398402.1_Missense_Mutation_p.Q113H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	113					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.562																																																	0													225.0	167.0	187.0					20																	23729656		2203	4300	6503	SO:0001583	missense	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.339G>C	20.37:g.23729656C>G	ENSP00000305731:p.Gln113His		Q96LE6|Q9UCQ6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q113H	ENST00000304749.2	37	c.339	CCDS13160.1	20	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654769	0.29425	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.27256	1.68;1.68	1.58	1.58	0.23477	Proteinase inhibitor I25, cystatin (2);	1.010930	0.07961	U	0.982392	T	0.41789	0.1174	L	0.53671	1.685	0.09310	N	1	D	0.65815	0.995	D	0.72075	0.976	T	0.21930	-1.0231	10	0.42905	T	0.14	.	6.6677	0.23050	0.0:1.0:0.0:0.0	.	113	P01037	CYTN_HUMAN	H	113	ENSP00000305731:Q113H;ENSP00000381439:Q113H	ENSP00000305731:Q113H	Q	-	3	2	CST1	23677656	0.000000	0.05858	0.020000	0.16555	0.199000	0.23934	-0.443000	0.06862	1.198000	0.43158	0.194000	0.17425	CAG	CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.562	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0.00	141	0	C	NM_001898		23729656	-1	tier1	-	no_errors	ENST00000304749	ensembl	human	known	74_37	missense	12.38	177	25	SNP	0.026	G
CTNND2	1501	genome.wustl.edu	37	5	11384850	11384850	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:11384850C>T	ENST00000304623.8	-	7	1293	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.A277A|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.A368A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	368					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGCTCGGACGCGTGGACCA	0.677																																																	0													56.0	48.0	51.0					5																	11384850		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1104G>A	5.37:g.11384850C>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A368	ENST00000304623.8	37	c.1104	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.677	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0.00	107	0	C	NM_001332		11384850	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.996	T
CTNND2	1501	genome.wustl.edu	37	5	11384850	11384850	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:11384850C>T	ENST00000304623.8	-	7	1293	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.A277A|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.A368A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	368					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGCTCGGACGCGTGGACCA	0.677																																																	0													56.0	48.0	51.0					5																	11384850		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1104G>A	5.37:g.11384850C>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A368	ENST00000304623.8	37	c.1104	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.677	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0.00	43	0	C	NM_001332		11384850	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.996	T
CTR9	9646	genome.wustl.edu	37	11	10785713	10785713	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:10785713G>C	ENST00000361367.2	+	10	1675	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	417					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCTTGGATTGAATTGGCACA	0.363																																																	0													148.0	154.0	152.0					11																	10785713		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1249G>C	11.37:g.10785713G>C	ENSP00000355013:p.Glu417Gln		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E417Q	ENST00000361367.2	37	c.1249	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853906	0.91355	.	.	ENSG00000198730	ENST00000361367	T	0.52295	0.67	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	T	0.68534	-0.5383	10	0.27785	T	0.31	-31.7767	20.6593	0.99626	0.0:0.0:1.0:0.0	.	417	Q6PD62	CTR9_HUMAN	Q	417	ENSP00000355013:E417Q	ENSP00000355013:E417Q	E	+	1	0	CTR9	10742289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.838000	0.99474	2.885000	0.99019	0.655000	0.94253	GAA	CTR9	-	pfscan_TPR-contain_dom	ENSG00000198730		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0.00	100	0	G	NM_014633		10785713	+1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	8.93	102	10	SNP	1.000	C
CTR9	9646	genome.wustl.edu	37	11	10785713	10785713	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:10785713G>C	ENST00000361367.2	+	10	1675	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	417					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCTTGGATTGAATTGGCACA	0.363																																																	0													148.0	154.0	152.0					11																	10785713		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1249G>C	11.37:g.10785713G>C	ENSP00000355013:p.Glu417Gln		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E417Q	ENST00000361367.2	37	c.1249	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853906	0.91355	.	.	ENSG00000198730	ENST00000361367	T	0.52295	0.67	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	T	0.68534	-0.5383	10	0.27785	T	0.31	-31.7767	20.6593	0.99626	0.0:0.0:1.0:0.0	.	417	Q6PD62	CTR9_HUMAN	Q	417	ENSP00000355013:E417Q	ENSP00000355013:E417Q	E	+	1	0	CTR9	10742289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.838000	0.99474	2.885000	0.99019	0.655000	0.94253	GAA	CTR9	-	pfscan_TPR-contain_dom	ENSG00000198730		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0.00	116	0	G	NM_014633		10785713	+1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	8.93	102	10	SNP	1.000	C
CUTC	51076	genome.wustl.edu	37	10	101502959	101502959	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:101502959G>T	ENST00000370476.5	+	4	372	c.243G>T	c.(241-243)atG>atT	p.M81I	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	81					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TTTTTGTGATGATTCGGCCAC	0.418																																																	0													209.0	193.0	199.0					10																	101502959		2203	4300	6503	SO:0001583	missense	0			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.243G>T	10.37:g.101502959G>T	ENSP00000359507:p.Met81Ile		Q5TCZ8|Q9Y321	Missense_Mutation	SNP	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.M81I	ENST00000370476.5	37	c.243	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767200	0.49574	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.79	5.79	0.91817	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.56769	1.78	0.80722	D	1	P;P	0.49559	0.925;0.579	P;P	0.53912	0.737;0.689	T	0.57248	-0.7844	9	0.16896	T	0.51	-17.1561	14.2176	0.65805	0.0711:0.0:0.9289:0.0	.	81;81	B4DYM2;Q9NTM9	.;CUTC_HUMAN	I	81;18	.	ENSP00000359503:M18I	M	+	3	0	CUTC	101492949	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.886000	0.87288	2.732000	0.93576	0.585000	0.79938	ATG	CUTC	-	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	ENSG00000119929		0.418	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	HGNC	protein_coding	OTTHUMT00000049811.1	-	0.00	80	0	G	NM_015960		101502959	+1	tier1	-	no_errors	ENST00000370476	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	T
CUTC	51076	genome.wustl.edu	37	10	101502959	101502959	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:101502959G>T	ENST00000370476.5	+	4	372	c.243G>T	c.(241-243)atG>atT	p.M81I	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	81					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TTTTTGTGATGATTCGGCCAC	0.418																																																	0													209.0	193.0	199.0					10																	101502959		2203	4300	6503	SO:0001583	missense	0			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.243G>T	10.37:g.101502959G>T	ENSP00000359507:p.Met81Ile		Q5TCZ8|Q9Y321	Missense_Mutation	SNP	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.M81I	ENST00000370476.5	37	c.243	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767200	0.49574	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.79	5.79	0.91817	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.56769	1.78	0.80722	D	1	P;P	0.49559	0.925;0.579	P;P	0.53912	0.737;0.689	T	0.57248	-0.7844	9	0.16896	T	0.51	-17.1561	14.2176	0.65805	0.0711:0.0:0.9289:0.0	.	81;81	B4DYM2;Q9NTM9	.;CUTC_HUMAN	I	81;18	.	ENSP00000359503:M18I	M	+	3	0	CUTC	101492949	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.886000	0.87288	2.732000	0.93576	0.585000	0.79938	ATG	CUTC	-	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	ENSG00000119929		0.418	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	HGNC	protein_coding	OTTHUMT00000049811.1	-	0.00	87	0	G	NM_015960		101502959	+1	tier1	-	no_errors	ENST00000370476	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	T
CWF19L2	143884	genome.wustl.edu	37	11	107299528	107299528	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:107299528G>A	ENST00000282251.5	-	8	1457	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A477V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	477							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAAATACCCAGCAAATGTAGA	0.343																																																	0													128.0	136.0	133.0					11																	107299528		2201	4298	6499	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1430C>T	11.37:g.107299528G>A	ENSP00000282251:p.Ala477Val		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.A477V	ENST00000282251.5	37	c.1430	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159957	0.38119	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.26373	1.74;1.74	5.42	3.5	0.40072	.	0.673788	0.15339	N	0.267617	T	0.23410	0.0566	M	0.68317	2.08	0.09310	N	0.99999	B	0.29862	0.259	B	0.21360	0.034	T	0.14755	-1.0461	10	0.26408	T	0.33	.	8.1754	0.31278	0.08:0.0:0.7639:0.1562	.	477	Q2TBE0	C19L2_HUMAN	V	477	ENSP00000282251:A477V;ENSP00000387533:A477V	ENSP00000282251:A477V	A	-	2	0	CWF19L2	106804738	0.907000	0.30839	0.038000	0.18304	0.013000	0.08279	5.813000	0.69201	0.717000	0.32145	0.609000	0.83330	GCT	CWF19L2	-	NULL	ENSG00000152404		0.343	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0.00	73	0	G	NM_152434		107299528	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	11.46	85	11	SNP	0.319	A
CWF19L2	143884	genome.wustl.edu	37	11	107299528	107299528	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:107299528G>A	ENST00000282251.5	-	8	1457	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A477V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	477							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAAATACCCAGCAAATGTAGA	0.343																																																	0													128.0	136.0	133.0					11																	107299528		2201	4298	6499	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1430C>T	11.37:g.107299528G>A	ENSP00000282251:p.Ala477Val		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.A477V	ENST00000282251.5	37	c.1430	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159957	0.38119	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.26373	1.74;1.74	5.42	3.5	0.40072	.	0.673788	0.15339	N	0.267617	T	0.23410	0.0566	M	0.68317	2.08	0.09310	N	0.99999	B	0.29862	0.259	B	0.21360	0.034	T	0.14755	-1.0461	10	0.26408	T	0.33	.	8.1754	0.31278	0.08:0.0:0.7639:0.1562	.	477	Q2TBE0	C19L2_HUMAN	V	477	ENSP00000282251:A477V;ENSP00000387533:A477V	ENSP00000282251:A477V	A	-	2	0	CWF19L2	106804738	0.907000	0.30839	0.038000	0.18304	0.013000	0.08279	5.813000	0.69201	0.717000	0.32145	0.609000	0.83330	GCT	CWF19L2	-	NULL	ENSG00000152404		0.343	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0.00	79	0	G	NM_152434		107299528	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	11.46	85	11	SNP	0.319	A
CX3CR1	1524	genome.wustl.edu	37	3	39306949	39306949	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:39306949G>A	ENST00000541347.1	-	2	1291	c.1052C>T	c.(1051-1053)gCa>gTa	p.A351V	CX3CR1_ENST00000542107.1_Missense_Mutation_p.A351V|CX3CR1_ENST00000358309.3_Missense_Mutation_p.A383V|CX3CR1_ENST00000399220.2_Missense_Mutation_p.A351V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	351					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.A351V(1)|p.A383V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAGGAGCAATGCATCTCCATC	0.458																																																	2	Substitution - Missense(2)	lung(2)											150.0	143.0	145.0					3																	39306949		1965	4161	6126	SO:0001583	missense	0			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1052C>T	3.37:g.39306949G>A	ENSP00000439140:p.Ala351Val		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.A383V	ENST00000541347.1	37	c.1148	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097327	0.08681	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.66995	-0.2;-0.24;-0.2;-0.2	5.37	-7.23	0.01480	.	1.662590	0.03111	N	0.162410	T	0.29061	0.0722	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.08599	T	0.76	.	3.9788	0.09486	0.1738:0.4114:0.2537:0.1611	.	351	P49238	CX3C1_HUMAN	V	351;359;383;351;351	ENSP00000382166:A351V;ENSP00000351059:A383V;ENSP00000439140:A351V;ENSP00000444928:A351V	ENSP00000351059:A383V	A	-	2	0	CX3CR1	39281953	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.347000	0.07750	-1.258000	0.02471	-0.885000	0.02943	GCA	CX3CR1	-	prints_Chemokine_CX3CR1	ENSG00000168329		0.458	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1		0.00	54	0	G	NM_001337		39306949	-1			no_errors	ENST00000358309	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	A
CYB561D2	11068	genome.wustl.edu	37	3	50388920	50388920	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:50388920C>T	ENST00000418577.1	+	1	632	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CYB561D2_ENST00000419046.1_3'UTR|XXcos-LUCA11.5_ENST00000606589.1_Missense_Mutation_p.S19F|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S19F|CYB561D2_ENST00000424512.1_Missense_Mutation_p.S19F|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S19F|NPRL2_ENST00000232501.3_5'Flank			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	19	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTACTGCTTCTGGCGCTGCC	0.572																																																	0													105.0	91.0	95.0					3																	50388920		2203	4300	6503	SO:0001583	missense	0			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.56C>T	3.37:g.50388920C>T	ENSP00000391209:p.Ser19Phe		A8K552	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.S19F	ENST00000418577.1	37	c.56	CCDS2827.1	3	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106655	0.56291	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.62	5.62	0.85841	Cytochrome b561/ferric reductase transmembrane (1);	0.113509	0.64402	D	0.000008	T	0.43077	0.1231	N	0.21194	0.64	0.49687	D	0.999815	B	0.12013	0.005	B	0.08055	0.003	T	0.25328	-1.0135	9	0.27082	T	0.32	.	13.5654	0.61815	0.0:0.9246:0.0:0.0754	.	19	O14569	C56D2_HUMAN	F	19	.	ENSP00000232508:S19F	S	+	2	0	CYB561D2	50363924	0.989000	0.36119	1.000000	0.80357	0.882000	0.50991	1.812000	0.38952	2.651000	0.90000	0.561000	0.74099	TCT	CYB561D2	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000114395		0.572	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYB561D2	HGNC	protein_coding	OTTHUMT00000345973.1	-	0.00	67	0	C	NM_007022		50388920	+1	tier1	-	no_errors	ENST00000232508	ensembl	human	known	74_37	missense	24.32	56	18	SNP	0.999	T
CYB561D2	11068	genome.wustl.edu	37	3	50388920	50388920	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:50388920C>T	ENST00000418577.1	+	1	632	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CYB561D2_ENST00000419046.1_3'UTR|XXcos-LUCA11.5_ENST00000606589.1_Missense_Mutation_p.S19F|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S19F|CYB561D2_ENST00000424512.1_Missense_Mutation_p.S19F|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S19F|NPRL2_ENST00000232501.3_5'Flank			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	19	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTACTGCTTCTGGCGCTGCC	0.572																																																	0													105.0	91.0	95.0					3																	50388920		2203	4300	6503	SO:0001583	missense	0			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.56C>T	3.37:g.50388920C>T	ENSP00000391209:p.Ser19Phe		A8K552	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.S19F	ENST00000418577.1	37	c.56	CCDS2827.1	3	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106655	0.56291	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.62	5.62	0.85841	Cytochrome b561/ferric reductase transmembrane (1);	0.113509	0.64402	D	0.000008	T	0.43077	0.1231	N	0.21194	0.64	0.49687	D	0.999815	B	0.12013	0.005	B	0.08055	0.003	T	0.25328	-1.0135	9	0.27082	T	0.32	.	13.5654	0.61815	0.0:0.9246:0.0:0.0754	.	19	O14569	C56D2_HUMAN	F	19	.	ENSP00000232508:S19F	S	+	2	0	CYB561D2	50363924	0.989000	0.36119	1.000000	0.80357	0.882000	0.50991	1.812000	0.38952	2.651000	0.90000	0.561000	0.74099	TCT	CYB561D2	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000114395		0.572	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYB561D2	HGNC	protein_coding	OTTHUMT00000345973.1	-	0.00	83	0	C	NM_007022		50388920	+1	tier1	-	no_errors	ENST00000232508	ensembl	human	known	74_37	missense	24.32	56	18	SNP	0.999	T
CYP4F22	126410	genome.wustl.edu	37	19	15648458	15648458	+	Silent	SNP	C	C	T	rs377373101		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:15648458C>T	ENST00000269703.3	+	6	733	c.534C>T	c.(532-534)agC>agT	p.S178S	CYP4F22_ENST00000601005.2_Silent_p.S178S	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	178			S -> C (in dbSNP:rs16980531).			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCAACCAGAGCGCTGACATTA	0.547																																																	0								C		0,4406		0,0,2203	114.0	110.0	112.0		534	1.5	0.0	19		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP4F22	NM_173483.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		178/532	15648458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.534C>T	19.37:g.15648458C>T			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S178	ENST00000269703.3	37	c.534	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2		0.00	44	0	C	NM_173483		15648458	+1			no_errors	ENST00000269703	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.035	T
CYP4F8	11283	genome.wustl.edu	37	19	15740032	15740032	+	RNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:15740032C>T	ENST00000441682.2	+	0	1488							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTCGCGATGGCAGAGATGAAG	0.657																																																	0													39.0	38.0	38.0					19																	15740032		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15740032C>T				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	8.153	0.787822	0.16258	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.42	-2.17	0.07059	.	0.521439	0.18085	U	0.152171	T	0.35998	0.0951	.	.	.	0.38704	D	0.953060	B;B	0.20887	0.049;0.022	B;B	0.37387	0.248;0.111	T	0.36359	-0.9751	7	0.39692	T	0.17	.	2.7464	0.05268	0.2919:0.4598:0.1463:0.1019	.	288;476	B4DU85;P98187	.;CP4F8_HUMAN	V	475;288	.	ENSP00000314398:A288V	A	+	2	0	CYP4F8	15601032	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.014000	0.12656	-0.601000	0.05783	0.436000	0.28706	GCA	CYP4F8	-	-	ENSG00000186526		0.657	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0.00	106	0	C	NM_007253		15740032	+1	tier1	-	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.170	T
DBNL	28988	genome.wustl.edu	37	7	44099013	44099013	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:44099013G>A	ENST00000448521.1	+	10	994	c.896G>A	c.(895-897)aGa>aAa	p.R299K	DBNL_ENST00000468694.1_Missense_Mutation_p.R308K|DBNL_ENST00000490734.2_Missense_Mutation_p.R205K|DBNL_ENST00000494774.1_Missense_Mutation_p.R300K|DBNL_ENST00000452943.1_Missense_Mutation_p.R275K|DBNL_ENST00000440166.1_Missense_Mutation_p.R196K|DBNL_ENST00000456905.1_Missense_Mutation_p.R251K|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	299					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CACTTTGGCAGAGAGCCAGCT	0.592																																					NSCLC(68;573 1327 18604 34760 37992)												0													40.0	42.0	41.0					7																	44099013		2203	4300	6503	SO:0001583	missense	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.896G>A	7.37:g.44099013G>A	ENSP00000411701:p.Arg299Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.R308K	ENST00000448521.1	37	c.923	CCDS34623.1	7	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403370	0.25291	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.28895	1.97;2.26;2.28;2.28;1.59;1.97;2.25	5.56	2.7	0.31948	Src homology-3 domain (1);	1.608970	0.04090	N	0.311184	T	0.25269	0.0614	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.09022	0.002;0.001;0.002;0.001;0.002;0.001;0.002;0.001;0.001	B;B;B;B;B;B;B;B;B	0.11329	0.003;0.002;0.002;0.001;0.004;0.002;0.006;0.001;0.002	T	0.24404	-1.0161	10	0.08837	T	0.75	-0.8793	2.8499	0.05554	0.1578:0.1435:0.5502:0.1484	.	196;248;229;251;205;275;308;299;300	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	K	299;251;196;275;308;300;205;229	ENSP00000411701:R299K;ENSP00000416421:R251K;ENSP00000415173:R196K;ENSP00000405343:R275K;ENSP00000417653:R308K;ENSP00000419992:R300K;ENSP00000417749:R205K	ENSP00000415173:R196K	R	+	2	0	DBNL	44065538	0.509000	0.26163	0.009000	0.14445	0.962000	0.63368	1.521000	0.35910	0.279000	0.22186	0.650000	0.86243	AGA	DBNL	-	superfamily_SH3_domain	ENSG00000136279		0.592	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	-	0.00	69	0	G	NM_014063		44099013	+1	tier1	-	no_errors	ENST00000468694	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.014	A
DBNL	28988	genome.wustl.edu	37	7	44099013	44099013	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:44099013G>A	ENST00000448521.1	+	10	994	c.896G>A	c.(895-897)aGa>aAa	p.R299K	DBNL_ENST00000468694.1_Missense_Mutation_p.R308K|DBNL_ENST00000490734.2_Missense_Mutation_p.R205K|DBNL_ENST00000494774.1_Missense_Mutation_p.R300K|DBNL_ENST00000452943.1_Missense_Mutation_p.R275K|DBNL_ENST00000440166.1_Missense_Mutation_p.R196K|DBNL_ENST00000456905.1_Missense_Mutation_p.R251K|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	299					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CACTTTGGCAGAGAGCCAGCT	0.592																																					NSCLC(68;573 1327 18604 34760 37992)												0													40.0	42.0	41.0					7																	44099013		2203	4300	6503	SO:0001583	missense	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.896G>A	7.37:g.44099013G>A	ENSP00000411701:p.Arg299Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.R308K	ENST00000448521.1	37	c.923	CCDS34623.1	7	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403370	0.25291	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.28895	1.97;2.26;2.28;2.28;1.59;1.97;2.25	5.56	2.7	0.31948	Src homology-3 domain (1);	1.608970	0.04090	N	0.311184	T	0.25269	0.0614	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.09022	0.002;0.001;0.002;0.001;0.002;0.001;0.002;0.001;0.001	B;B;B;B;B;B;B;B;B	0.11329	0.003;0.002;0.002;0.001;0.004;0.002;0.006;0.001;0.002	T	0.24404	-1.0161	10	0.08837	T	0.75	-0.8793	2.8499	0.05554	0.1578:0.1435:0.5502:0.1484	.	196;248;229;251;205;275;308;299;300	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	K	299;251;196;275;308;300;205;229	ENSP00000411701:R299K;ENSP00000416421:R251K;ENSP00000415173:R196K;ENSP00000405343:R275K;ENSP00000417653:R308K;ENSP00000419992:R300K;ENSP00000417749:R205K	ENSP00000415173:R196K	R	+	2	0	DBNL	44065538	0.509000	0.26163	0.009000	0.14445	0.962000	0.63368	1.521000	0.35910	0.279000	0.22186	0.650000	0.86243	AGA	DBNL	-	superfamily_SH3_domain	ENSG00000136279		0.592	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	-	0.00	70	0	G	NM_014063		44099013	+1	tier1	-	no_errors	ENST00000468694	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.014	A
DCDC1	341019	genome.wustl.edu	37	11	30914499	30914499	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:30914499G>A	ENST00000597505.1	-	34	4938	c.4939C>T	c.(4939-4941)Cca>Tca	p.P1647S	DCDC1_ENST00000406071.2_Missense_Mutation_p.P385S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTGCAATTGGAAAATTTATT	0.408																																																	0													182.0	171.0	174.0					11																	30914499		1864	4107	5971	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4939C>T	11.37:g.30914499G>A	ENSP00000472625:p.Pro1647Ser		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.P385S	ENST00000597505.1	37	c.1153		11	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028890	0.54790	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.64	3.66	0.41972	.	.	.	.	.	T	0.36936	0.0985	L	0.53249	1.67	0.18873	N	0.999986	.	.	.	.	.	.	T	0.31916	-0.9926	6	0.05436	T	0.98	.	11.0192	0.47707	0.0:0.1382:0.7188:0.1429	.	.	.	.	S	385	.	ENSP00000385936:P385S	P	-	1	0	DCDC5	30871075	0.003000	0.15002	0.005000	0.12908	0.014000	0.08584	0.828000	0.27435	1.510000	0.48803	0.650000	0.86243	CCA	DCDC1	-	NULL	ENSG00000170959		0.408	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	74	0	G	NM_181807		30914499	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.005	A
DCDC1	341019	genome.wustl.edu	37	11	30914499	30914499	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:30914499G>A	ENST00000597505.1	-	34	4938	c.4939C>T	c.(4939-4941)Cca>Tca	p.P1647S	DCDC1_ENST00000406071.2_Missense_Mutation_p.P385S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTGCAATTGGAAAATTTATT	0.408																																																	0													182.0	171.0	174.0					11																	30914499		1864	4107	5971	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4939C>T	11.37:g.30914499G>A	ENSP00000472625:p.Pro1647Ser		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.P385S	ENST00000597505.1	37	c.1153		11	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028890	0.54790	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.64	3.66	0.41972	.	.	.	.	.	T	0.36936	0.0985	L	0.53249	1.67	0.18873	N	0.999986	.	.	.	.	.	.	T	0.31916	-0.9926	6	0.05436	T	0.98	.	11.0192	0.47707	0.0:0.1382:0.7188:0.1429	.	.	.	.	S	385	.	ENSP00000385936:P385S	P	-	1	0	DCDC5	30871075	0.003000	0.15002	0.005000	0.12908	0.014000	0.08584	0.828000	0.27435	1.510000	0.48803	0.650000	0.86243	CCA	DCDC1	-	NULL	ENSG00000170959		0.408	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	78	0	G	NM_181807		30914499	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.005	A
DCK	1633	genome.wustl.edu	37	4	71889385	71889385	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:71889385G>A	ENST00000286648.5	+	4	908	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	DCK_ENST00000504730.1_Missense_Mutation_p.E171K|DCK_ENST00000504952.1_Missense_Mutation_p.E171K	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	171					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CCAAAGCCTTGAATTGGATGG	0.343																																																	0													73.0	77.0	76.0					4																	71889385		2203	4300	6503	SO:0001583	missense	0			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.511G>A	4.37:g.71889385G>A	ENSP00000286648:p.Glu171Lys		B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	p.E171K	ENST00000286648.5	37	c.511	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277562	0.40294	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98762	-5.12;-4.69;-5.09	6.17	4.36	0.52297	.	0.133866	0.64402	D	0.000002	D	0.95389	0.8503	L	0.28504	0.86	0.58432	D	0.99999	B	0.14012	0.009	B	0.15052	0.012	D	0.92982	0.6407	10	0.10902	T	0.67	.	11.7388	0.51780	0.0661:0.1242:0.8098:0.0	.	171	P27707	DCK_HUMAN	K	171	ENSP00000286648:E171K;ENSP00000425578:E171K;ENSP00000421508:E171K	ENSP00000286648:E171K	E	+	1	0	DCK	72108249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.755000	0.62198	1.616000	0.50265	0.655000	0.94253	GAA	DCK	-	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	ENSG00000156136		0.343	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	-	0.00	89	0	G			71889385	+1	tier1	-	no_errors	ENST00000286648	ensembl	human	known	74_37	missense	9.52	95	10	SNP	1.000	A
DDX56	54606	genome.wustl.edu	37	7	44612216	44612216	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:44612216G>A	ENST00000258772.5	-	4	617	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	DDX56_ENST00000431640.1_Missense_Mutation_p.L171F|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	171	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AAGGAAAAAAGAAGGTCAGCT	0.502																																																	0													136.0	139.0	138.0					7																	44612216		2203	4300	6503	SO:0001583	missense	0			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.511C>T	7.37:g.44612216G>A	ENSP00000258772:p.Leu171Phe		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L171F	ENST00000258772.5	37	c.511	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	.	20.2	3.949062	0.73787	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.52983	0.64;0.64	5.48	3.63	0.41609	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.211078	0.40469	N	0.001082	T	0.63792	0.2541	M	0.78344	2.41	0.49915	D	0.999839	D;D	0.59357	0.972;0.985	P;D	0.63283	0.841;0.913	T	0.65627	-0.6122	10	0.87932	D	0	-10.6803	9.4297	0.38601	0.0:0.2966:0.55:0.1533	.	171;171	C9JV95;Q9NY93	.;DDX56_HUMAN	F	171	ENSP00000258772:L171F;ENSP00000393488:L171F	ENSP00000258772:L171F	L	-	1	0	DDX56	44578741	0.991000	0.36638	0.996000	0.52242	0.982000	0.71751	1.442000	0.35046	0.765000	0.33221	0.655000	0.94253	CTT	DDX56	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000136271		0.502	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	-	0.00	56	0	G	NM_019082		44612216	-1	tier1	-	no_errors	ENST00000258772	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	A
DENND1B	163486	genome.wustl.edu	37	1	197611873	197611873	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:197611873G>T	ENST00000367396.3	-	10	809	c.640C>A	c.(640-642)Cgc>Agc	p.R214S	DENND1B_ENST00000235453.4_Missense_Mutation_p.R184S|DENND1B_ENST00000400967.2_Missense_Mutation_p.R184S	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	214	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ATCACGATGCGCCTTTCATGC	0.378																																																	0													87.0	79.0	82.0					1																	197611873		1961	4209	6170	SO:0001583	missense	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.640C>A	1.37:g.197611873G>T	ENSP00000356366:p.Arg214Ser		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214S	ENST00000367396.3	37	c.640	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283802	0.59867	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.18960	2.18;2.18;2.18	4.46	4.46	0.54185	DENN (3);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.58595	-0.7609	10	0.87932	D	0	-13.2398	14.052	0.64742	0.0:0.0:0.8487:0.1512	.	214;194;214;184	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	S	214;194;184;214;184	ENSP00000235453:R184S;ENSP00000356366:R214S;ENSP00000383751:R184S	ENSP00000235453:R184S	R	-	1	0	DENND1B	195878496	1.000000	0.71417	0.990000	0.47175	0.347000	0.29111	7.510000	0.81708	2.188000	0.69820	0.650000	0.86243	CGC	DENND1B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000213047		0.378	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1		0.00	54	0	G	NM_144977		197611873	-1			no_errors	ENST00000367396	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
GNAO1	2775	genome.wustl.edu	37	16	56228332	56228332	+	Intron	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:56228332G>A	ENST00000262493.6	+	2	1007				CTD-2050B12.2_ENST00000567381.1_RNA|GNAO1_ENST00000569295.1_Intron|GNAO1_ENST00000262494.7_Intron	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CAGCAGTGGCGGACTCGGAGC	0.587																																																	0																																										SO:0001627	intron_variant	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.161+1804G>A	16.37:g.56228332G>A			P29777|Q8TD72|Q9UMV4	RNA	SNP	-	NULL	ENST00000262493.6	37	NULL	CCDS10756.1	16																																																																																			CTD-2050B12.2	-	-	ENSG00000261439		0.587	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZP434H168	Clone_based_vega_gene	protein_coding	OTTHUMT00000256981.2	-	0.00	12	0	G	NM_020988		56228332	-1	tier1	-	no_errors	ENST00000567381	ensembl	human	known	74_37	rna	22.22	14	4	SNP	0.000	A
MIR15A	406948	genome.wustl.edu	37	13	50618818	50618819	+	IGR	INS	-	-	T	rs199942593	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:50618818_50618819insT								KCNRG (23760 upstream) : MIR16-1 (4289 downstream)																							AGTTTAGGTCATTTTTTTTTCC	0.302																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.50618827_50618827dupT				RNA	INS	-	NULL		37	NULL		13																																																																																			DLEU2	-	-	ENSG00000231607	0	0.302					DLEU2	HGNC				0.00	20	0	-			50618819	-1	tier1		no_errors	ENST00000235290	ensembl	human	known	74_37	rna	12.77	41	6	INS	0.001:0.000	T
DLG2	1740	genome.wustl.edu	37	11	83676493	83676493	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:83676493C>T	ENST00000532653.1	-	8	1062	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DLG2_ENST00000537455.1_Missense_Mutation_p.E8K|DLG2_ENST00000531015.1_Missense_Mutation_p.E221K|DLG2_ENST00000280241.8_Missense_Mutation_p.E293K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E193K|DLG2_ENST00000543673.1_Missense_Mutation_p.E359K|DLG2_ENST00000524982.1_Missense_Mutation_p.E254K|DLG2_ENST00000376104.2_Missense_Mutation_p.E359K|DLG2_ENST00000418306.2_Missense_Mutation_p.E203K|DLG2_ENST00000398301.2_Missense_Mutation_p.E293K|DLG2_ENST00000398309.2_Missense_Mutation_p.E254K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	225	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTACTTCTTCTAAACTGTAG	0.343																																																	0													247.0	225.0	232.0					11																	83676493		1837	4089	5926	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.760G>A	11.37:g.83676493C>T	ENSP00000435849:p.Glu254Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E359K	ENST00000532653.1	37	c.1075		11	.	.	.	.	.	.	.	.	.	.	C	32	5.157044	0.94686	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T;T	0.54479	1.56;1.56;1.56;1.56;1.56;1.56;0.57;1.56;1.56;1.56;1.56;1.56	5.47	5.47	0.80525	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.71169	0.3308	M	0.64630	1.985	0.80722	D	1	P;D;P;D;P;D;P;B	0.65815	0.627;0.99;0.942;0.991;0.903;0.995;0.603;0.32	P;D;D;D;D;D;P;B	0.81914	0.536;0.956;0.919;0.937;0.952;0.995;0.449;0.401	T	0.69420	-0.5150	9	.	.	.	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	221;254;254;193;293;359;254;203	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	254;359;203;359;293;193;8;254;254;359;221;293;171	ENSP00000381355:E254K;ENSP00000365272:E359K;ENSP00000402275:E203K;ENSP00000441994:E359K;ENSP00000280241:E293K;ENSP00000381353:E193K;ENSP00000443248:E8K;ENSP00000432894:E254K;ENSP00000435849:E254K;ENSP00000433848:E221K;ENSP00000381346:E293K;ENSP00000381344:E171K	.	E	-	1	0	DLG2	83354141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.558000	0.86282	0.467000	0.42956	GAA	DLG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.343	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	53	0	C	NM_001364		83676493	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	8.89	82	8	SNP	1.000	T
DLG2	1740	genome.wustl.edu	37	11	83676493	83676493	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:83676493C>T	ENST00000532653.1	-	8	1062	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DLG2_ENST00000537455.1_Missense_Mutation_p.E8K|DLG2_ENST00000531015.1_Missense_Mutation_p.E221K|DLG2_ENST00000280241.8_Missense_Mutation_p.E293K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E193K|DLG2_ENST00000543673.1_Missense_Mutation_p.E359K|DLG2_ENST00000524982.1_Missense_Mutation_p.E254K|DLG2_ENST00000376104.2_Missense_Mutation_p.E359K|DLG2_ENST00000418306.2_Missense_Mutation_p.E203K|DLG2_ENST00000398301.2_Missense_Mutation_p.E293K|DLG2_ENST00000398309.2_Missense_Mutation_p.E254K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	225	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTACTTCTTCTAAACTGTAG	0.343																																																	0													247.0	225.0	232.0					11																	83676493		1837	4089	5926	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.760G>A	11.37:g.83676493C>T	ENSP00000435849:p.Glu254Lys		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E359K	ENST00000532653.1	37	c.1075		11	.	.	.	.	.	.	.	.	.	.	C	32	5.157044	0.94686	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T;T	0.54479	1.56;1.56;1.56;1.56;1.56;1.56;0.57;1.56;1.56;1.56;1.56;1.56	5.47	5.47	0.80525	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.71169	0.3308	M	0.64630	1.985	0.80722	D	1	P;D;P;D;P;D;P;B	0.65815	0.627;0.99;0.942;0.991;0.903;0.995;0.603;0.32	P;D;D;D;D;D;P;B	0.81914	0.536;0.956;0.919;0.937;0.952;0.995;0.449;0.401	T	0.69420	-0.5150	9	.	.	.	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	221;254;254;193;293;359;254;203	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	254;359;203;359;293;193;8;254;254;359;221;293;171	ENSP00000381355:E254K;ENSP00000365272:E359K;ENSP00000402275:E203K;ENSP00000441994:E359K;ENSP00000280241:E293K;ENSP00000381353:E193K;ENSP00000443248:E8K;ENSP00000432894:E254K;ENSP00000435849:E254K;ENSP00000433848:E221K;ENSP00000381346:E293K;ENSP00000381344:E171K	.	E	-	1	0	DLG2	83354141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.558000	0.86282	0.467000	0.42956	GAA	DLG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.343	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	60	0	C	NM_001364		83676493	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	8.89	82	8	SNP	1.000	T
DNAH14	127602	genome.wustl.edu	37	1	225152209	225152209	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:225152209T>G	ENST00000445597.2	+	6	777	c.777T>G	c.(775-777)aaT>aaG	p.N259K	DNAH14_ENST00000366850.3_Missense_Mutation_p.N132K|DNAH14_ENST00000439375.2_Missense_Mutation_p.N132K|DNAH14_ENST00000430092.1_Missense_Mutation_p.N132K|DNAH14_ENST00000366849.1_Missense_Mutation_p.N132K|DNAH14_ENST00000400952.3_Missense_Mutation_p.N132K|DNAH14_ENST00000366848.1_Missense_Mutation_p.N132K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	259					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGATAAGAAATATTATTAGGC	0.328																																																	0													90.0	89.0	89.0					1																	225152209		1797	4072	5869	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.777T>G	1.37:g.225152209T>G	ENSP00000409472:p.Asn259Lys		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.N132K	ENST00000445597.2	37	c.396		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.89|10.89	1.479516|1.479516	0.26511|0.26511	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000433124|ENST00000445597;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	.|T;T;T;T;T;T;T	.|0.30981	.|2.58;1.63;1.51;1.56;1.55;1.51;1.63	5.2|5.2	2.81|2.81	0.32909|0.32909	.|.	.|0.212210	.|0.33040	.|N	.|0.005354	T|T	0.22322|0.22322	0.0538|0.0538	.|.	.|.	.|.	0.23533|0.23533	N|N	0.997476|0.997476	.|B;B;B;B	.|0.32160	.|0.187;0.358;0.358;0.244	.|B;B;B;B	.|0.32805	.|0.051;0.153;0.117;0.055	T|T	0.15435|0.15435	-1.0437|-1.0437	4|9	.|0.56958	.|D	.|0.05	.|.	7.636|7.636	0.28267|0.28267	0.0:0.1764:0.0:0.8236|0.0:0.1764:0.0:0.8236	.|.	.|132;132;132;259	.|Q0VDD8-4;Q0VDD8-3;Q0VDD8-2;Q0VDD8	.|.;.;.;DYH14_HUMAN	R|K	30|259;132;132;132;132;132;132	.|ENSP00000409472:N259K;ENSP00000414402:N132K;ENSP00000355815:N132K;ENSP00000383737:N132K;ENSP00000355814:N132K;ENSP00000355813:N132K;ENSP00000392061:N132K	.|ENSP00000355813:N132K	I|N	+|+	2|3	0|2	DNAH14|DNAH14	223218832|223218832	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.702000|0.702000	0.40608|0.40608	0.643000|0.643000	0.24750|0.24750	0.888000|0.888000	0.36160|0.36160	0.329000|0.329000	0.21502|0.21502	ATA|AAT	DNAH14	-	NULL	ENSG00000185842		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	120	0	T	XM_059166		225152209	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	7.41	125	10	SNP	0.834	G
DNAH14	127602	genome.wustl.edu	37	1	225152209	225152209	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:225152209T>G	ENST00000445597.2	+	6	777	c.777T>G	c.(775-777)aaT>aaG	p.N259K	DNAH14_ENST00000366850.3_Missense_Mutation_p.N132K|DNAH14_ENST00000439375.2_Missense_Mutation_p.N132K|DNAH14_ENST00000430092.1_Missense_Mutation_p.N132K|DNAH14_ENST00000366849.1_Missense_Mutation_p.N132K|DNAH14_ENST00000400952.3_Missense_Mutation_p.N132K|DNAH14_ENST00000366848.1_Missense_Mutation_p.N132K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	259					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGATAAGAAATATTATTAGGC	0.328																																																	0													90.0	89.0	89.0					1																	225152209		1797	4072	5869	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.777T>G	1.37:g.225152209T>G	ENSP00000409472:p.Asn259Lys		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.N132K	ENST00000445597.2	37	c.396		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.89|10.89	1.479516|1.479516	0.26511|0.26511	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000433124|ENST00000445597;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	.|T;T;T;T;T;T;T	.|0.30981	.|2.58;1.63;1.51;1.56;1.55;1.51;1.63	5.2|5.2	2.81|2.81	0.32909|0.32909	.|.	.|0.212210	.|0.33040	.|N	.|0.005354	T|T	0.22322|0.22322	0.0538|0.0538	.|.	.|.	.|.	0.23533|0.23533	N|N	0.997476|0.997476	.|B;B;B;B	.|0.32160	.|0.187;0.358;0.358;0.244	.|B;B;B;B	.|0.32805	.|0.051;0.153;0.117;0.055	T|T	0.15435|0.15435	-1.0437|-1.0437	4|9	.|0.56958	.|D	.|0.05	.|.	7.636|7.636	0.28267|0.28267	0.0:0.1764:0.0:0.8236|0.0:0.1764:0.0:0.8236	.|.	.|132;132;132;259	.|Q0VDD8-4;Q0VDD8-3;Q0VDD8-2;Q0VDD8	.|.;.;.;DYH14_HUMAN	R|K	30|259;132;132;132;132;132;132	.|ENSP00000409472:N259K;ENSP00000414402:N132K;ENSP00000355815:N132K;ENSP00000383737:N132K;ENSP00000355814:N132K;ENSP00000355813:N132K;ENSP00000392061:N132K	.|ENSP00000355813:N132K	I|N	+|+	2|3	0|2	DNAH14|DNAH14	223218832|223218832	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.702000|0.702000	0.40608|0.40608	0.643000|0.643000	0.24750|0.24750	0.888000|0.888000	0.36160|0.36160	0.329000|0.329000	0.21502|0.21502	ATA|AAT	DNAH14	-	NULL	ENSG00000185842		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	92	0	T	XM_059166		225152209	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	7.41	125	10	SNP	0.834	G
DNAH8	1769	genome.wustl.edu	37	6	38718294	38718294	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:38718294G>A	ENST00000359357.3	+	7	939	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E229K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E446K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	229					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACAGCAAATGAATCCAAAGA	0.308																																																	0													129.0	128.0	128.0					6																	38718294		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.685G>A	6.37:g.38718294G>A	ENSP00000352312:p.Glu229Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E229K	ENST00000359357.3	37	c.685		6	.	.	.	.	.	.	.	.	.	.	G	33	5.250677	0.95305	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.59083	0.29;0.29;0.29	5.82	5.82	0.92795	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80924	-0.1165	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	229	Q96JB1	DYH8_HUMAN	K	434;434;229;229	ENSP00000333363:E434K;ENSP00000352312:E229K;ENSP00000402294:E229K	ENSP00000333363:E434K	E	+	1	0	DNAH8	38826272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.468000	0.73551	2.756000	0.94617	0.563000	0.77884	GAA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	48	0	G	NM_001206927		38718294	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	8.00	92	8	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38718294	38718294	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:38718294G>A	ENST00000359357.3	+	7	939	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E229K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E446K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	229					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACAGCAAATGAATCCAAAGA	0.308																																																	0													129.0	128.0	128.0					6																	38718294		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.685G>A	6.37:g.38718294G>A	ENSP00000352312:p.Glu229Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E229K	ENST00000359357.3	37	c.685		6	.	.	.	.	.	.	.	.	.	.	G	33	5.250677	0.95305	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.59083	0.29;0.29;0.29	5.82	5.82	0.92795	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80924	-0.1165	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	229	Q96JB1	DYH8_HUMAN	K	434;434;229;229	ENSP00000333363:E434K;ENSP00000352312:E229K;ENSP00000402294:E229K	ENSP00000333363:E434K	E	+	1	0	DNAH8	38826272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.468000	0.73551	2.756000	0.94617	0.563000	0.77884	GAA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	52	0	G	NM_001206927		38718294	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	8.00	92	8	SNP	1.000	A
DNAJC21	134218	genome.wustl.edu	37	5	34933927	34933927	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:34933927T>A	ENST00000342382.4	+	2	332	c.105T>A	c.(103-105)aaT>aaA	p.N35K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.N35K|DNAJC21_ENST00000382021.2_Missense_Mutation_p.N35K			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	35	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGATAAAAATCTGGATAATG	0.378																																																	0													65.0	62.0	63.0					5																	34933927		2203	4300	6503	SO:0001583	missense	0				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.105T>A	5.37:g.34933927T>A	ENSP00000343728:p.Asn35Lys		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain	p.N35K	ENST00000342382.4	37	c.105	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043809	0.75732	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.37058	1.22;1.22;1.22	5.34	0.266	0.15617	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.52223	-0.8604	10	0.39692	T	0.17	-36.4212	9.5987	0.39589	0.0:0.4743:0.0:0.5257	.	35;35	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	K	35	ENSP00000343728:N35K;ENSP00000371451:N35K;ENSP00000306289:N35K	ENSP00000306289:N35K	N	+	3	2	DNAJC21	34969684	0.981000	0.34729	0.999000	0.59377	0.973000	0.67179	0.384000	0.20668	0.031000	0.15407	0.402000	0.26972	AAT	DNAJC21	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000168724		0.378	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1		0.00	25	0	T	NM_194283		34933927	+1			no_errors	ENST00000382021	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	A
DOCK4	9732	genome.wustl.edu	37	7	111624408	111624408	+	Missense_Mutation	SNP	C	C	T	rs368007201		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:111624408C>T	ENST00000437633.1	-	7	758	c.502G>A	c.(502-504)Gca>Aca	p.A168T	DOCK4_ENST00000428084.1_Missense_Mutation_p.A168T|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	168					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCCACCATTGCGTACTCTTTC	0.428																																																	0								C	THR/ALA	1,3765		0,1,1882	79.0	78.0	78.0		502	4.0	1.0	7		78	0,8226		0,0,4113	no	missense	DOCK4	NM_014705.3	58	0,1,5995	TT,TC,CC		0.0,0.0266,0.0083	benign	168/1967	111624408	1,11991	1883	4113	5996	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.502G>A	7.37:g.111624408C>T	ENSP00000404179:p.Ala168Thr		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.A168T	ENST00000437633.1	37	c.502	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990473	0.35131	2.66E-4	0.0	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.02916	4.11;4.11	4.87	3.98	0.46160	.	0.163209	0.53938	D	0.000048	T	0.02571	0.0078	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.31290	0.214;0.318;0.318;0.318	B;B;B;B	0.26969	0.03;0.047;0.075;0.03	T	0.56444	-0.7978	10	0.15499	T	0.54	.	13.7925	0.63150	0.1546:0.8454:0.0:0.0	.	168;168;168;168	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	T	156;168;168;156;167	ENSP00000410746:A168T;ENSP00000404179:A168T	ENSP00000345432:A156T	A	-	1	0	DOCK4	111411644	1.000000	0.71417	0.964000	0.40570	0.849000	0.48306	3.148000	0.50647	1.149000	0.42402	0.655000	0.94253	GCA	DOCK4	-	NULL	ENSG00000128512		0.428	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0.00	49	0	C	NM_014705		111624408	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83847209	83847209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:83847209C>T	ENST00000349129.2	+	21	3708	c.3448C>T	c.(3448-3450)Caa>Taa	p.Q1150*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1131*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1141*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1150					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATGATGTTCAACAGGTAGT	0.438																																																	0													76.0	75.0	75.0					6																	83847209		2203	4299	6502	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3448C>T	6.37:g.83847209C>T	ENSP00000195654:p.Gln1150*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.Q1150*	ENST00000349129.2	37	c.3448	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.152723	0.99348	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.69	5.69	0.88448	.	0.055189	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.8089	0.96540	0.0:1.0:0.0:0.0	.	.	.	.	X	1150;1131;1131	.	ENSP00000237163:Q1131X	Q	+	1	0	DOPEY1	83903928	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.272000	0.51616	2.677000	0.91161	0.460000	0.39030	CAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.438	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0.00	55	0	C	NM_015018		83847209	+1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	9.38	58	6	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83847209	83847209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:83847209C>T	ENST00000349129.2	+	21	3708	c.3448C>T	c.(3448-3450)Caa>Taa	p.Q1150*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1131*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1141*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1150					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATGATGTTCAACAGGTAGT	0.438																																																	0													76.0	75.0	75.0					6																	83847209		2203	4299	6502	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3448C>T	6.37:g.83847209C>T	ENSP00000195654:p.Gln1150*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.Q1150*	ENST00000349129.2	37	c.3448	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.152723	0.99348	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.69	5.69	0.88448	.	0.055189	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.8089	0.96540	0.0:1.0:0.0:0.0	.	.	.	.	X	1150;1131;1131	.	ENSP00000237163:Q1131X	Q	+	1	0	DOPEY1	83903928	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.272000	0.51616	2.677000	0.91161	0.460000	0.39030	CAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.438	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0.00	68	0	C	NM_015018		83847209	+1	tier1	-	no_errors	ENST00000349129	ensembl	human	known	74_37	nonsense	9.38	58	6	SNP	1.000	T
DPH5	51611	genome.wustl.edu	37	1	101456100	101456100	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:101456100C>T	ENST00000370109.3	-	8	834	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	DPH5_ENST00000427040.2_Missense_Mutation_p.C2Y|AC093157.1_ENST00000593496.1_Missense_Mutation_p.H32Y|DPH5_ENST00000488176.1_Missense_Mutation_p.C241Y|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.C240Y	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	241					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		GTCCACAGTGCACATTTGCCT	0.458																																																	0													128.0	124.0	126.0					1																	101456100		2032	4197	6229	SO:0001583	missense	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.722G>A	1.37:g.101456100C>T	ENSP00000359127:p.Cys241Tyr		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.C241Y	ENST00000370109.3	37	c.722	CCDS41358.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490350	0.44249	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	3.9	0.45041	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.578547	0.20458	N	0.091957	T	0.36744	0.0978	L	0.47190	1.495	0.24415	N	0.994646	B;B	0.23442	0.085;0.085	B;B	0.35182	0.197;0.197	T	0.46470	-0.9189	9	0.59425	D	0.04	-11.4588	15.5314	0.75964	0.0:0.5697:0.4303:0.0	.	241;240	Q9H2P9;A8JZY6	DPH5_HUMAN;.	Y	241;240;190;2;240;241	.	ENSP00000339630:C240Y	C	-	2	0	DPH5	101228688	0.978000	0.34361	0.901000	0.35422	0.881000	0.50899	2.594000	0.46189	1.468000	0.48064	0.655000	0.94253	TGC	DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.458	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1	-	0.00	53	0	C	NM_015958		101456100	-1	tier1	-	no_errors	ENST00000370109	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.701	T
DPH5	51611	genome.wustl.edu	37	1	101456100	101456100	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:101456100C>T	ENST00000370109.3	-	8	834	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	DPH5_ENST00000427040.2_Missense_Mutation_p.C2Y|AC093157.1_ENST00000593496.1_Missense_Mutation_p.H32Y|DPH5_ENST00000488176.1_Missense_Mutation_p.C241Y|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.C240Y	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	241					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		GTCCACAGTGCACATTTGCCT	0.458																																																	0													128.0	124.0	126.0					1																	101456100		2032	4197	6229	SO:0001583	missense	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.722G>A	1.37:g.101456100C>T	ENSP00000359127:p.Cys241Tyr		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.C241Y	ENST00000370109.3	37	c.722	CCDS41358.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490350	0.44249	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	3.9	0.45041	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.578547	0.20458	N	0.091957	T	0.36744	0.0978	L	0.47190	1.495	0.24415	N	0.994646	B;B	0.23442	0.085;0.085	B;B	0.35182	0.197;0.197	T	0.46470	-0.9189	9	0.59425	D	0.04	-11.4588	15.5314	0.75964	0.0:0.5697:0.4303:0.0	.	241;240	Q9H2P9;A8JZY6	DPH5_HUMAN;.	Y	241;240;190;2;240;241	.	ENSP00000339630:C240Y	C	-	2	0	DPH5	101228688	0.978000	0.34361	0.901000	0.35422	0.881000	0.50899	2.594000	0.46189	1.468000	0.48064	0.655000	0.94253	TGC	DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.458	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1	-	0.00	82	0	C	NM_015958		101456100	-1	tier1	-	no_errors	ENST00000370109	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.701	T
STEAP2-AS1	100874100	genome.wustl.edu	37	7	89753452	89753452	+	RNA	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:89753452G>T	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA					STEAP2 antisense RNA 1																		TTTGGAACGGGAGATGACTTT	0.318																																																	0																																												0					7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89753452G>T				RNA	SNP	-	NULL	ENST00000478318.2	37	NULL		7																																																																																			DPY19L2P4	-	-	ENSG00000235436		0.318	STEAP2-AS1-002	KNOWN	basic	antisense	DPY19L2P4	HGNC	processed_transcript	OTTHUMT00000350909.2		0.00	64	0	G			89753452	+1			no_errors	ENST00000497063	ensembl	human	known	74_37	rna	5.06	74	4	SNP	0.998	T
DTD2	112487	genome.wustl.edu	37	14	31917469	31917469	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:31917469G>C	ENST00000310850.4	-	3	489	c.373C>G	c.(373-375)Cta>Gta	p.L125V	RP11-176H8.1_ENST00000547378.1_Intron|CTD-2213F21.2_ENST00000502430.2_RNA|DTD2_ENST00000356180.4_Missense_Mutation_p.L125V	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	125					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										TTTTCACATAGAGTCACAAAT	0.418																																																	0													237.0	241.0	240.0					14																	31917469		2203	4300	6503	SO:0001583	missense	0			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.373C>G	14.37:g.31917469G>C	ENSP00000312224:p.Leu125Val		D3DS87	Missense_Mutation	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	p.L125V	ENST00000310850.4	37	c.373	CCDS9643.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603748	0.28534	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.49432	0.78;0.78	5.75	3.94	0.45596	D-Tyr tRNAtyr deacylase-like domain (2);	0.134163	0.51477	D	0.000081	T	0.44829	0.1312	M	0.73962	2.25	0.42471	D	0.992822	P	0.40909	0.732	B	0.37731	0.257	T	0.35649	-0.9780	10	0.22706	T	0.39	-11.7254	10.4569	0.44557	0.2251:0.0:0.7749:0.0	.	125	Q96FN9	DTD2_HUMAN	V	125	ENSP00000312224:L125V;ENSP00000348503:L125V	ENSP00000312224:L125V	L	-	1	2	C14orf126	30987220	0.995000	0.38212	0.733000	0.30861	0.747000	0.42532	2.447000	0.44917	0.785000	0.33685	-0.251000	0.11542	CTA	DTD2	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	ENSG00000129480		0.418	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD2	HGNC	protein_coding	OTTHUMT00000276614.2	-	0.00	102	0	G	NM_080664		31917469	-1	tier1	-	no_errors	ENST00000310850	ensembl	human	known	74_37	missense	8.70	105	10	SNP	0.989	C
DTD2	112487	genome.wustl.edu	37	14	31917469	31917469	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:31917469G>C	ENST00000310850.4	-	3	489	c.373C>G	c.(373-375)Cta>Gta	p.L125V	RP11-176H8.1_ENST00000547378.1_Intron|CTD-2213F21.2_ENST00000502430.2_RNA|DTD2_ENST00000356180.4_Missense_Mutation_p.L125V	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	125					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										TTTTCACATAGAGTCACAAAT	0.418																																																	0													237.0	241.0	240.0					14																	31917469		2203	4300	6503	SO:0001583	missense	0			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.373C>G	14.37:g.31917469G>C	ENSP00000312224:p.Leu125Val		D3DS87	Missense_Mutation	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	p.L125V	ENST00000310850.4	37	c.373	CCDS9643.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603748	0.28534	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.49432	0.78;0.78	5.75	3.94	0.45596	D-Tyr tRNAtyr deacylase-like domain (2);	0.134163	0.51477	D	0.000081	T	0.44829	0.1312	M	0.73962	2.25	0.42471	D	0.992822	P	0.40909	0.732	B	0.37731	0.257	T	0.35649	-0.9780	10	0.22706	T	0.39	-11.7254	10.4569	0.44557	0.2251:0.0:0.7749:0.0	.	125	Q96FN9	DTD2_HUMAN	V	125	ENSP00000312224:L125V;ENSP00000348503:L125V	ENSP00000312224:L125V	L	-	1	2	C14orf126	30987220	0.995000	0.38212	0.733000	0.30861	0.747000	0.42532	2.447000	0.44917	0.785000	0.33685	-0.251000	0.11542	CTA	DTD2	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	ENSG00000129480		0.418	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD2	HGNC	protein_coding	OTTHUMT00000276614.2	-	0.00	78	0	G	NM_080664		31917469	-1	tier1	-	no_errors	ENST00000310850	ensembl	human	known	74_37	missense	8.70	105	10	SNP	0.989	C
DTYMK	1841	genome.wustl.edu	37	2	242617947	242617947	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:242617947G>A	ENST00000305784.2	-	4	655	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	150					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCTCATAGCGCTCATGGCCA	0.577																																																	0													80.0	85.0	83.0					2																	242617947		2203	4296	6499	SO:0001583	missense	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.448C>T	2.37:g.242617947G>A	ENSP00000304802:p.Arg150Cys		B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	p.R150C	ENST00000305784.2	37	c.448	CCDS2552.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318443|2.318443	0.40996|0.40996	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000305784	.|D	.|0.95342	.|-3.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.252909	.|0.38897	.|N	.|0.001530	D|D	0.98046|0.98046	0.9356|0.9356	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.98866|0.98866	1.0764|1.0764	5|10	.|0.87932	.|D	.|0	-19.5194|-19.5194	13.7209|13.7209	0.62725|0.62725	0.0:0.0:0.846:0.154|0.0:0.0:0.846:0.154	.|.	.|126;150	.|B7ZW70;P23919	.|.;KTHY_HUMAN	V|C	107|150	.|ENSP00000304802:R150C	.|ENSP00000304802:R150C	A|R	-|-	2|1	0|0	DTYMK|DTYMK	242266620|242266620	1.000000|1.000000	0.71417|0.71417	0.482000|0.482000	0.27366|0.27366	0.024000|0.024000	0.10985|0.10985	3.439000|3.439000	0.52878|0.52878	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GCG|CGC	DTYMK	-	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	ENSG00000168393		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2	-	0.00	40	0	G	NM_012145		242617947	-1	tier1	-	no_errors	ENST00000305784	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.998	A
DTYMK	1841	genome.wustl.edu	37	2	242617947	242617947	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:242617947G>A	ENST00000305784.2	-	4	655	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	150					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCTCATAGCGCTCATGGCCA	0.577																																																	0													80.0	85.0	83.0					2																	242617947		2203	4296	6499	SO:0001583	missense	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.448C>T	2.37:g.242617947G>A	ENSP00000304802:p.Arg150Cys		B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	p.R150C	ENST00000305784.2	37	c.448	CCDS2552.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318443|2.318443	0.40996|0.40996	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000305784	.|D	.|0.95342	.|-3.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.252909	.|0.38897	.|N	.|0.001530	D|D	0.98046|0.98046	0.9356|0.9356	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.98866|0.98866	1.0764|1.0764	5|10	.|0.87932	.|D	.|0	-19.5194|-19.5194	13.7209|13.7209	0.62725|0.62725	0.0:0.0:0.846:0.154|0.0:0.0:0.846:0.154	.|.	.|126;150	.|B7ZW70;P23919	.|.;KTHY_HUMAN	V|C	107|150	.|ENSP00000304802:R150C	.|ENSP00000304802:R150C	A|R	-|-	2|1	0|0	DTYMK|DTYMK	242266620|242266620	1.000000|1.000000	0.71417|0.71417	0.482000|0.482000	0.27366|0.27366	0.024000|0.024000	0.10985|0.10985	3.439000|3.439000	0.52878|0.52878	2.493000|2.493000	0.84123|0.84123	0.655000|0.655000	0.94253|0.94253	GCG|CGC	DTYMK	-	superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	ENSG00000168393		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2	-	0.00	44	0	G	NM_012145		242617947	-1	tier1	-	no_errors	ENST00000305784	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.998	A
DYNC1I1	1780	genome.wustl.edu	37	7	95625347	95625347	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95625347T>G	ENST00000324972.6	+	10	1175	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.F291V|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.F308V|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.F311V|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.F291V|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.F311V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	328					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAACATGAAGTTTAAGAAAAC	0.433																																																	0													200.0	178.0	185.0					7																	95625347		2203	4300	6503	SO:0001583	missense	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.982T>G	7.37:g.95625347T>G	ENSP00000320130:p.Phe328Val		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.F328V	ENST00000324972.6	37	c.982	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321069	0.81580	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.73897	-0.57;-0.57;-0.79;-0.57;-0.56;-0.57	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.71206	2.165	0.80722	D	1	P;P;P;P;P	0.51933	0.914;0.712;0.949;0.588;0.481	P;P;P;B;B	0.54140	0.558;0.559;0.743;0.359;0.205	D	0.83986	0.0335	10	0.66056	D	0.02	-17.1069	14.9777	0.71286	0.0:0.0:0.0:1.0	.	311;308;311;328;291	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	V	311;328;291;308;291;311	ENSP00000392337:F311V;ENSP00000320130:F328V;ENSP00000438377:F291V;ENSP00000398118:F308V;ENSP00000352348:F291V;ENSP00000412444:F311V	ENSP00000320130:F328V	F	+	1	0	DYNC1I1	95463283	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.868000	0.87116	2.194000	0.70268	0.533000	0.62120	TTT	DYNC1I1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000158560		0.433	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0.00	117	0	T	NM_004411		95625347	+1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	12.73	96	14	SNP	1.000	G
DYNC1I1	1780	genome.wustl.edu	37	7	95625347	95625347	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95625347T>G	ENST00000324972.6	+	10	1175	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.F291V|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.F308V|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.F311V|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.F291V|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.F311V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	328					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAACATGAAGTTTAAGAAAAC	0.433																																																	0													200.0	178.0	185.0					7																	95625347		2203	4300	6503	SO:0001583	missense	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.982T>G	7.37:g.95625347T>G	ENSP00000320130:p.Phe328Val		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.F328V	ENST00000324972.6	37	c.982	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321069	0.81580	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.73897	-0.57;-0.57;-0.79;-0.57;-0.56;-0.57	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.71206	2.165	0.80722	D	1	P;P;P;P;P	0.51933	0.914;0.712;0.949;0.588;0.481	P;P;P;B;B	0.54140	0.558;0.559;0.743;0.359;0.205	D	0.83986	0.0335	10	0.66056	D	0.02	-17.1069	14.9777	0.71286	0.0:0.0:0.0:1.0	.	311;308;311;328;291	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	V	311;328;291;308;291;311	ENSP00000392337:F311V;ENSP00000320130:F328V;ENSP00000438377:F291V;ENSP00000398118:F308V;ENSP00000352348:F291V;ENSP00000412444:F311V	ENSP00000320130:F328V	F	+	1	0	DYNC1I1	95463283	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.868000	0.87116	2.194000	0.70268	0.533000	0.62120	TTT	DYNC1I1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000158560		0.433	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0.00	81	0	T	NM_004411		95625347	+1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	12.73	96	14	SNP	1.000	G
DYNC2H1	79659	genome.wustl.edu	37	11	103048317	103048317	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:103048317A>T	ENST00000375735.2	+	38	6051	c.5907A>T	c.(5905-5907)ttA>ttT	p.L1969F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1969F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1969	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGAACAGTTATGCCAGAGGA	0.353																																																	0													93.0	92.0	92.0					11																	103048317		1885	4107	5992	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5907A>T	11.37:g.103048317A>T	ENSP00000364887:p.Leu1969Phe		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1969F	ENST00000375735.2	37	c.5907	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550971	0.65311	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.34072	1.38;1.38	5.77	2.16	0.27623	.	.	.	.	.	T	0.58424	0.2121	M	0.88450	2.955	0.45150	D	0.998167	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	T	0.54234	-0.8324	9	0.54805	T	0.06	.	4.8714	0.13635	0.5945:0.0:0.278:0.1274	.	1969;1969	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1969	ENSP00000364887:L1969F;ENSP00000381167:L1969F	ENSP00000364887:L1969F	L	+	3	2	DYNC2H1	102553527	0.888000	0.30383	0.586000	0.28679	0.990000	0.78478	0.669000	0.25142	0.121000	0.18284	0.528000	0.53228	TTA	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	71	0	A	XM_370652		103048317	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	14.29	90	15	SNP	0.997	T
DYNC2H1	79659	genome.wustl.edu	37	11	103270418	103270418	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:103270418C>T	ENST00000375735.2	+	84	12328	c.12184C>T	c.(12184-12186)Cct>Tct	p.P4062S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P4069S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4062					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGAAAGTGCCTCCTCCTAA	0.338																																																	0													69.0	64.0	66.0					11																	103270418		1860	4094	5954	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12184C>T	11.37:g.103270418C>T	ENSP00000364887:p.Pro4062Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4069S	ENST00000375735.2	37	c.12205	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.821668	0.00589	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08008	3.14;3.14	5.78	1.95	0.26073	Dynein heavy chain (1);	0.720818	0.13895	N	0.355295	T	0.01870	0.0059	N	0.00788	-1.185	0.24788	N	0.992779	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45352	-0.9267	10	0.08179	T	0.78	.	3.0132	0.06051	0.2309:0.0691:0.1222:0.5779	.	4062;4069	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	4062;4069;308	ENSP00000364887:P4062S;ENSP00000381167:P4069S	ENSP00000364887:P4062S	P	+	1	0	DYNC2H1	102775628	0.998000	0.40836	0.966000	0.40874	0.174000	0.22865	0.504000	0.22626	0.438000	0.26450	-0.484000	0.04775	CCT	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	39	0	C	XM_370652		103270418	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.996	T
DYNC2H1	79659	genome.wustl.edu	37	11	103270418	103270418	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:103270418C>T	ENST00000375735.2	+	84	12328	c.12184C>T	c.(12184-12186)Cct>Tct	p.P4062S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P4069S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4062					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGAAAGTGCCTCCTCCTAA	0.338																																																	0													69.0	64.0	66.0					11																	103270418		1860	4094	5954	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12184C>T	11.37:g.103270418C>T	ENSP00000364887:p.Pro4062Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4069S	ENST00000375735.2	37	c.12205	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.821668	0.00589	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08008	3.14;3.14	5.78	1.95	0.26073	Dynein heavy chain (1);	0.720818	0.13895	N	0.355295	T	0.01870	0.0059	N	0.00788	-1.185	0.24788	N	0.992779	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45352	-0.9267	10	0.08179	T	0.78	.	3.0132	0.06051	0.2309:0.0691:0.1222:0.5779	.	4062;4069	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	4062;4069;308	ENSP00000364887:P4062S;ENSP00000381167:P4069S	ENSP00000364887:P4062S	P	+	1	0	DYNC2H1	102775628	0.998000	0.40836	0.966000	0.40874	0.174000	0.22865	0.504000	0.22626	0.438000	0.26450	-0.484000	0.04775	CCT	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	61	0	C	XM_370652		103270418	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.996	T
EEF1D	1936	genome.wustl.edu	37	8	144662317	144662317	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:144662317G>A	ENST00000529272.1	-	7	1072	c.672C>T	c.(670-672)gaC>gaT	p.D224D	NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000528610.1_Silent_p.D200D|EEF1D_ENST00000532400.1_Missense_Mutation_p.T40M|EEF1D_ENST00000531621.1_Silent_p.D181D|NAPRT1_ENST00000426292.3_5'Flank|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Silent_p.D224D|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000423316.2_Silent_p.D590D|EEF1D_ENST00000526838.1_Silent_p.D205D|EEF1D_ENST00000524624.1_Silent_p.D200D|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000532741.1_Silent_p.D640D|EEF1D_ENST00000419152.2_Silent_p.D224D|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000395119.3_Silent_p.D224D|EEF1D_ENST00000442189.2_Silent_p.D590D			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	224	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGACCAGCCCGTCCAGCTGGA	0.622																																																	0													34.0	39.0	37.0					8																	144662317		2203	4299	6502	SO:0001819	synonymous_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.672C>T	8.37:g.144662317G>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	NULL	p.T40M	ENST00000529272.1	37	c.119	CCDS6405.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.119815|3.119815	0.56613|0.56613	.|.	.|.	ENSG00000104529|ENSG00000104529	ENST00000530109|ENST00000532400	.|.	.|.	.|.	4.84|4.84	-5.21|-5.21	0.02815|0.02815	.|.	.|.	.|.	.|.	.|.	T|T	0.69242|0.69242	0.3089|0.3089	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73767|0.73767	-0.3879|-0.3879	4|5	.|0.59425	.|D	.|0.04	.|.	14.9618|14.9618	0.71161|0.71161	0.5901:0.0:0.4099:0.0|0.5901:0.0:0.4099:0.0	.|.	.|.	.|.	.|.	W|M	99|40	.|.	.|ENSP00000433784:T40M	R|T	-|-	1|2	2|0	EEF1D|EEF1D	144733460|144733460	0.988000|0.988000	0.35896|0.35896	0.863000|0.863000	0.33907|0.33907	0.974000|0.974000	0.67602|0.67602	0.149000|0.149000	0.16243|0.16243	-1.191000|-1.191000	0.02695|0.02695	-0.237000|-0.237000	0.12165|0.12165	CGG|ACG	EEF1D	-	NULL	ENSG00000104529		0.622	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	-	0.00	71	0	G	NM_032378		144662317	-1	tier1	-	no_errors	ENST00000532400	ensembl	human	novel	74_37	missense	19.30	46	11	SNP	0.984	A
EFCC1	79825	genome.wustl.edu	37	3	128720904	128720904	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:128720904T>C	ENST00000480450.1	+	1	433	c.433T>C	c.(433-435)Ttc>Ctc	p.F145L	EFCC1_ENST00000436022.2_5'UTR|KIAA1257_ENST00000510149.1_Intron			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	145							calcium ion binding (GO:0005509)										CTTCCGCCAGTTCCACGCGCG	0.731																																																	0													2.0	4.0	4.0					3																	128720904		409	1222	1631	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.433T>C	3.37:g.128720904T>C	ENSP00000420075:p.Phe145Leu		A8MYE2	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.F145L	ENST00000480450.1	37	c.433	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596993	0.46318	.	.	ENSG00000114654	ENST00000480450	T	0.70282	-0.47	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000001	T	0.80166	0.4573	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.81028	-0.1118	10	0.87932	D	0	-24.2998	9.8863	0.41264	0.0:0.0:0.0:1.0	.	145	Q9HA90	CCD48_HUMAN	L	145	ENSP00000420075:F145L	ENSP00000420075:F145L	F	+	1	0	CCDC48	130203594	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.699000	0.54778	1.196000	0.43129	0.254000	0.18369	TTC	EFCC1	-	NULL	ENSG00000114654		0.731	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EFCC1	HGNC	protein_coding	OTTHUMT00000352832.1	-	0.00	16	0	T	NM_024768		128720904	+1	tier1	-	no_errors	ENST00000480450	ensembl	human	novel	74_37	missense	28.57	10	4	SNP	1.000	C
EFHD1	80303	genome.wustl.edu	37	2	233546386	233546386	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233546386G>A	ENST00000264059.3	+	4	1154	c.677G>A	c.(676-678)cGc>cAc	p.R226H	EFHD1_ENST00000410095.1_Missense_Mutation_p.R114H|EFHD1_ENST00000409708.1_Missense_Mutation_p.R114H|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Missense_Mutation_p.R130H	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	226					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.R226H(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGCGGCTCCGCCAGGCAGCC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											81.0	72.0	75.0					2																	233546386		2203	4300	6503	SO:0001583	missense	0				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.677G>A	2.37:g.233546386G>A	ENSP00000264059:p.Arg226His		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R226H	ENST00000264059.3	37	c.677	CCDS2497.1	2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610823	0.66558	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	4.77	0.60923	.	0.100872	0.64402	N	0.000002	T	0.58552	0.2130	M	0.71871	2.18	0.80722	D	1	B;D	0.56287	0.032;0.975	B;P	0.52159	0.007;0.691	T	0.64360	-0.6426	10	0.72032	D	0.01	-11.9883	13.4861	0.61366	0.0759:0.0:0.9241:0.0	.	130;226	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	H	130;226;129;114;114	ENSP00000386556:R130H;ENSP00000264059:R226H;ENSP00000386243:R114H;ENSP00000386685:R114H	ENSP00000264059:R226H	R	+	2	0	EFHD1	233254630	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	6.076000	0.71267	1.406000	0.46857	0.586000	0.80456	CGC	EFHD1	-	NULL	ENSG00000115468		0.567	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHD1	HGNC	protein_coding	OTTHUMT00000257040.2	-	0.00	100	0	G	NM_025202		233546386	+1	tier1	-	no_errors	ENST00000264059	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	A
EFHD1	80303	genome.wustl.edu	37	2	233546386	233546386	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233546386G>A	ENST00000264059.3	+	4	1154	c.677G>A	c.(676-678)cGc>cAc	p.R226H	EFHD1_ENST00000410095.1_Missense_Mutation_p.R114H|EFHD1_ENST00000409708.1_Missense_Mutation_p.R114H|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Missense_Mutation_p.R130H	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	226					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.R226H(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGCGGCTCCGCCAGGCAGCC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											81.0	72.0	75.0					2																	233546386		2203	4300	6503	SO:0001583	missense	0				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.677G>A	2.37:g.233546386G>A	ENSP00000264059:p.Arg226His		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R226H	ENST00000264059.3	37	c.677	CCDS2497.1	2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610823	0.66558	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	4.77	0.60923	.	0.100872	0.64402	N	0.000002	T	0.58552	0.2130	M	0.71871	2.18	0.80722	D	1	B;D	0.56287	0.032;0.975	B;P	0.52159	0.007;0.691	T	0.64360	-0.6426	10	0.72032	D	0.01	-11.9883	13.4861	0.61366	0.0759:0.0:0.9241:0.0	.	130;226	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	H	130;226;129;114;114	ENSP00000386556:R130H;ENSP00000264059:R226H;ENSP00000386243:R114H;ENSP00000386685:R114H	ENSP00000264059:R226H	R	+	2	0	EFHD1	233254630	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	6.076000	0.71267	1.406000	0.46857	0.586000	0.80456	CGC	EFHD1	-	NULL	ENSG00000115468		0.567	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHD1	HGNC	protein_coding	OTTHUMT00000257040.2	-	0.00	167	0	G	NM_025202		233546386	+1	tier1	-	no_errors	ENST00000264059	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	A
ELOVL4	6785	genome.wustl.edu	37	6	80631343	80631343	+	Splice_Site	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:80631343T>G	ENST00000369816.4	-	4	840	c.540A>C	c.(538-540)caA>caC	p.Q180H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	180					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AATGCTCACCTTGTCCTCCTG	0.383																																																	0													134.0	122.0	126.0					6																	80631343		2203	4300	6503	SO:0001630	splice_region_variant	0			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.541+1A>C	6.37:g.80631343T>G			B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.Q180H	ENST00000369816.4	37	c.540	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716549	0.48622	.	.	ENSG00000118402	ENST00000369816	T	0.22336	1.96	5.28	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.37800	1.135	0.58432	D	0.999991	D	0.71674	0.998	D	0.74674	0.984	T	0.13818	-1.0495	10	0.02654	T	1	-13.7443	9.5335	0.39209	0.0:0.0858:0.0:0.9142	.	180	Q9GZR5	ELOV4_HUMAN	H	180	ENSP00000358831:Q180H	ENSP00000358831:Q180H	Q	-	3	2	ELOVL4	80688062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.166000	0.42406	0.962000	0.38057	0.482000	0.46254	CAA	ELOVL4	-	pfam_GNS1_SUR4	ENSG00000118402		0.383	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	-	0.00	57	0	T		Missense_Mutation	80631343	-1	tier1	-	no_errors	ENST00000369816	ensembl	human	known	74_37	missense	8.51	86	8	SNP	1.000	G
ENO2	2026	genome.wustl.edu	37	12	7026211	7026211	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:7026211G>A	ENST00000535366.1	+	4	876	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	ENO2_ENST00000229277.1_Missense_Mutation_p.V84M|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.V84M|ENO2_ENST00000545045.2_Missense_Mutation_p.V84M|ENO2_ENST00000544774.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	84					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGGTCTCTCTGTGGTGGAGCA	0.597																																																	0													101.0	100.0	100.0					12																	7026211		2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.250G>A	12.37:g.7026211G>A	ENSP00000437402:p.Val84Met		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V84M	ENST00000535366.1	37	c.250	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	24.7	4.556026	0.86231	.	.	ENSG00000111674	ENST00000537688;ENST00000540580;ENST00000541477;ENST00000229277;ENST00000539713;ENST00000535366;ENST00000545045;ENST00000544430	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.16	4.23	0.50019	Enolase, N-terminal (1);	0.058851	0.64402	D	0.000002	T	0.64972	0.2647	H	0.97158	3.95	0.80722	D	1	P	0.37781	0.608	P	0.48400	0.576	T	0.74954	-0.3488	10	0.72032	D	0.01	-20.2648	13.8506	0.63494	0.0:0.0:0.8455:0.1544	.	84	P09104	ENOG_HUMAN	M	84	ENSP00000445788:V84M;ENSP00000443117:V84M;ENSP00000438873:V84M;ENSP00000229277:V84M;ENSP00000441740:V84M;ENSP00000437402:V84M;ENSP00000438062:V84M	ENSP00000229277:V84M	V	+	1	0	ENO2	6896472	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	9.866000	0.99616	1.235000	0.43724	0.556000	0.70494	GTG	ENO2	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000111674		0.597	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	-	0.00	54	0	G			7026211	+1	tier1	-	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	9.33	68	7	SNP	0.998	A
ENO2	2026	genome.wustl.edu	37	12	7026211	7026211	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:7026211G>A	ENST00000535366.1	+	4	876	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	ENO2_ENST00000229277.1_Missense_Mutation_p.V84M|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.V84M|ENO2_ENST00000545045.2_Missense_Mutation_p.V84M|ENO2_ENST00000544774.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	84					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGGTCTCTCTGTGGTGGAGCA	0.597																																																	0													101.0	100.0	100.0					12																	7026211		2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.250G>A	12.37:g.7026211G>A	ENSP00000437402:p.Val84Met		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V84M	ENST00000535366.1	37	c.250	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	24.7	4.556026	0.86231	.	.	ENSG00000111674	ENST00000537688;ENST00000540580;ENST00000541477;ENST00000229277;ENST00000539713;ENST00000535366;ENST00000545045;ENST00000544430	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.16	4.23	0.50019	Enolase, N-terminal (1);	0.058851	0.64402	D	0.000002	T	0.64972	0.2647	H	0.97158	3.95	0.80722	D	1	P	0.37781	0.608	P	0.48400	0.576	T	0.74954	-0.3488	10	0.72032	D	0.01	-20.2648	13.8506	0.63494	0.0:0.0:0.8455:0.1544	.	84	P09104	ENOG_HUMAN	M	84	ENSP00000445788:V84M;ENSP00000443117:V84M;ENSP00000438873:V84M;ENSP00000229277:V84M;ENSP00000441740:V84M;ENSP00000437402:V84M;ENSP00000438062:V84M	ENSP00000229277:V84M	V	+	1	0	ENO2	6896472	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	9.866000	0.99616	1.235000	0.43724	0.556000	0.70494	GTG	ENO2	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000111674		0.597	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	-	0.00	84	0	G			7026211	+1	tier1	-	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	9.33	68	7	SNP	0.998	A
ENPP1	5167	genome.wustl.edu	37	6	132172307	132172307	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:132172307C>T	ENST00000360971.2	+	4	476	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	152	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GCAACAAATTCAGGTGTGGTG	0.423																																					Colon(104;336 1535 5856 11019 33782)												0													148.0	142.0	144.0					6																	132172307		2203	4300	6503	SO:0001819	synonymous_variant	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.456C>T	6.37:g.132172307C>T			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F152	ENST00000360971.2	37	c.456	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom	ENSG00000197594		0.423	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0.00	70	0	C			132172307	+1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.994	T
ENPP2	5168	genome.wustl.edu	37	8	120608164	120608164	+	Intron	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:120608164G>T	ENST00000075322.6	-	12	1031				ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.P351T|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGAGCAACTGGTCTTTCCTGT	0.428																																					Melanoma(20;305 879 2501 4818 31020)												0													126.0	122.0	124.0					8																	120608164		2203	4300	6503	SO:0001627	intron_variant	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2064C>A	8.37:g.120608164G>T			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P351T	ENST00000075322.6	37	c.1051	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212535	0.79240	.	.	ENSG00000136960	ENST00000259486	T	0.75154	-0.91	5.93	5.93	0.95920	.	0.180955	0.27240	N	0.020261	T	0.78317	0.4264	.	.	.	0.80722	D	1	P	0.44816	0.844	P	0.46076	0.503	T	0.79662	-0.1710	9	0.62326	D	0.03	-6.6434	18.5344	0.91004	0.0:0.0:1.0:0.0	.	351	Q13822-2	.	T	351	ENSP00000259486:P351T	ENSP00000259486:P351T	P	-	1	0	ENPP2	120677345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.826000	0.97356	0.655000	0.94253	CCA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.428	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	-	0.00	94	0	G			120608164	-1	tier1	-	no_errors	ENST00000259486	ensembl	human	known	74_37	missense	16.67	95	19	SNP	1.000	T
MCF2	4168	genome.wustl.edu	37	X	138681442	138681442	+	Intron	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:138681442T>G	ENST00000370576.4	-	17	2046				MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Intron|MCF2_ENST00000536274.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						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)					ccacagtaacttttgcaccaa	0.363																																																	0																																										SO:0001627	intron_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	ENST00000370576.4:c.1837-785A>C	X.37:g.138681442T>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	RNA	SNP	-	NULL	ENST00000370576.4	37	NULL	CCDS14667.1	X																																																																																			AL033403.1	-	-	ENSG00000216114		0.363	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000216114	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000058560.1	-	0.00	41	0	T	NM_005369		138681442	-1	tier1	-	no_errors	ENST00000401295	ensembl	human	novel	74_37	rna	19.23	42	10	SNP	0.150	G
MCF2	4168	genome.wustl.edu	37	X	138681442	138681442	+	Intron	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:138681442T>G	ENST00000370576.4	-	17	2046				MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Intron|MCF2_ENST00000536274.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						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)					ccacagtaacttttgcaccaa	0.363																																																	0																																										SO:0001627	intron_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	ENST00000370576.4:c.1837-785A>C	X.37:g.138681442T>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	RNA	SNP	-	NULL	ENST00000370576.4	37	NULL	CCDS14667.1	X																																																																																			AL033403.1	-	-	ENSG00000216114		0.363	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000216114	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000058560.1	-	0.00	42	0	T	NM_005369		138681442	-1	tier1	-	no_errors	ENST00000401295	ensembl	human	novel	74_37	rna	19.23	42	10	SNP	0.150	G
TAOK3	51347	genome.wustl.edu	37	12	118604652	118604653	+	Intron	INS	-	-	ACAC	rs376430378|rs373259313|rs200569755|rs7487392		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:118604652_118604653insACAC	ENST00000392533.3	-	18	2390				TAOK3_ENST00000419821.2_Intron|AC026366.1_ENST00000408353.1_RNA|TAOK3_ENST00000537952.1_Intron	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					cacacacacatacacacacaca	0.421																																																	0																																										SO:0001627	intron_variant	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1900-4820->GTGT	12.37:g.118604657_118604660dupACAC			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	RNA	INS	-	NULL	ENST00000392533.3	37	NULL	CCDS9188.1	12																																																																																			AC026366.1	-	-	ENSG00000221280		0.421	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221280	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000401456.2		0.00	10	0	-	NM_016281		118604653	+1	tier1		no_errors	ENST00000408353	ensembl	human	novel	74_37	rna	33.33	4	2	INS	0.002:0.000	ACAC
LINC01205	401082	genome.wustl.edu	37	3	109129037	109129037	+	lincRNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:109129037C>T	ENST00000497996.1	+	0	201																											GGTGCGGCGGCGGCTGCGAAC	0.507																																																	0													21.0	27.0	25.0					3																	109129037		692	1591	2283			0																															3.37:g.109129037C>T				RNA	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			RP11-702L6.4	-	-	ENSG00000228980		0.507	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1	-	0.00	38	0	C			109129037	+1	tier1	-	no_errors	ENST00000489670	ensembl	human	known	74_37	rna	13.16	33	5	SNP	0.130	T
LINC01205	401082	genome.wustl.edu	37	3	109129037	109129037	+	lincRNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:109129037C>T	ENST00000497996.1	+	0	201																											GGTGCGGCGGCGGCTGCGAAC	0.507																																																	0													21.0	27.0	25.0					3																	109129037		692	1591	2283			0																															3.37:g.109129037C>T				RNA	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			RP11-702L6.4	-	-	ENSG00000228980		0.507	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1	-	0.00	54	0	C			109129037	+1	tier1	-	no_errors	ENST00000489670	ensembl	human	known	74_37	rna	13.16	33	5	SNP	0.130	T
NGRN	51335	genome.wustl.edu	37	15	90820758	90820758	+	RNA	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:90820758C>A	ENST00000411845.2	+	0	2493																											TTAAATATCACATTATTATTT	0.259																																																	0																																												0																															15.37:g.90820758C>A				RNA	SNP	-	NULL	ENST00000411845.2	37	NULL		15																																																																																			RP11-697E2.7	-	-	ENSG00000228998		0.259	RP11-697E2.7-001	KNOWN	basic	processed_transcript	ENSG00000228998	Clone_based_vega_gene	pseudogene	OTTHUMT00000435856.1	-	0.00	21	0	C			90820758	+1	tier1	-	no_errors	ENST00000411845	ensembl	human	known	74_37	rna	21.43	11	3	SNP	0.769	A
RP5-827C21.2	0	genome.wustl.edu	37	1	234492764	234492764	+	RNA	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:234492764G>A	ENST00000425104.1	+	0	13																											AGCCGCCGCCGCTGGCGCGCA	0.667																																																	0																																												0																															1.37:g.234492764G>A				RNA	SNP	-	NULL	ENST00000425104.1	37	NULL		1																																																																																			RP5-827C21.2	-	-	ENSG00000236358		0.667	RP5-827C21.2-001	KNOWN	basic	antisense	ENSG00000236358	Clone_based_vega_gene	antisense	OTTHUMT00000092611.1	-	0.00	123	0	G			234492764	+1	tier1	-	no_errors	ENST00000425104	ensembl	human	known	74_37	rna	15.28	61	11	SNP	1.000	A
RP5-827C21.2	0	genome.wustl.edu	37	1	234492764	234492764	+	RNA	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:234492764G>A	ENST00000425104.1	+	0	13																											AGCCGCCGCCGCTGGCGCGCA	0.667																																																	0																																												0																															1.37:g.234492764G>A				RNA	SNP	-	NULL	ENST00000425104.1	37	NULL		1																																																																																			RP5-827C21.2	-	-	ENSG00000236358		0.667	RP5-827C21.2-001	KNOWN	basic	antisense	ENSG00000236358	Clone_based_vega_gene	antisense	OTTHUMT00000092611.1	-	0.00	83	0	G			234492764	+1	tier1	-	no_errors	ENST00000425104	ensembl	human	known	74_37	rna	15.28	61	11	SNP	1.000	A
OR14A2	388761	genome.wustl.edu	37	1	247886392	247886392	+	IGR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:247886392T>G	ENST00000366485.1	-	0	945				RP11-634B7.5_ENST00000426444.1_RNA|RP11-634B7.4_ENST00000449298.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CTGACAGAACTTGAAAGTGTT	0.373																																																	0																																										SO:0001628	intergenic_variant	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207		1.37:g.247886392T>G				RNA	SNP	-	NULL	ENST00000366485.1	37	NULL		1																																																																																			RP11-634B7.5	-	-	ENSG00000239395		0.373	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000239395	Clone_based_vega_gene	protein_coding	OTTHUMT00000096864.1	-	0.00	66	0	T	NG_002409		247886392	-1	tier1	-	no_errors	ENST00000426444	ensembl	human	known	74_37	rna	9.84	109	12	SNP	0.000	G
RP11-508N22.8	0	genome.wustl.edu	37	10	38466857	38466857	+	RNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:38466857C>T	ENST00000423162.1	+	0	322				RP11-508N22.9_ENST00000419779.1_lincRNA																							ACCCTTCTGACCATCCAGAGG	0.333																																																	0																																												0																															10.37:g.38466857C>T				RNA	SNP	-	NULL	ENST00000423162.1	37	NULL		10																																																																																			RP11-508N22.9	-	-	ENSG00000241125		0.333	RP11-508N22.8-001	KNOWN	basic	processed_transcript	ENSG00000241125	Clone_based_vega_gene	processed_transcript	OTTHUMT00000047629.1	-	0.00	121	0	C			38466857	+1	tier1	-	no_errors	ENST00000419779	ensembl	human	known	74_37	rna	5.92	159	10	SNP	1.000	T
RP11-508N22.8	0	genome.wustl.edu	37	10	38466857	38466857	+	RNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:38466857C>T	ENST00000423162.1	+	0	322				RP11-508N22.9_ENST00000419779.1_lincRNA																							ACCCTTCTGACCATCCAGAGG	0.333																																																	0																																												0																															10.37:g.38466857C>T				RNA	SNP	-	NULL	ENST00000423162.1	37	NULL		10																																																																																			RP11-508N22.9	-	-	ENSG00000241125		0.333	RP11-508N22.8-001	KNOWN	basic	processed_transcript	ENSG00000241125	Clone_based_vega_gene	processed_transcript	OTTHUMT00000047629.1	-	0.00	139	0	C			38466857	+1	tier1	-	no_errors	ENST00000419779	ensembl	human	known	74_37	rna	5.92	159	10	SNP	1.000	T
FCGR1A	2209	genome.wustl.edu	37	1	149754533	149754533	+	Intron	SNP	G	G	A	rs375786643	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:149754533G>A	ENST00000369168.4	+	2	85				HIST2H2BF_ENST00000545683.1_3'UTR|RP11-196G18.21_ENST00000420462.1_RNA|FCGR1A_ENST00000489479.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGACGCACCGCAGTGAAGTT	0.418													G|||	6	0.00119808	0.0	0.0	5008	,	,		22291	0.0		0.0	False		,,,				2504	0.0061																0																																										SO:0001627	intron_variant	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.32-193G>A	1.37:g.149754533G>A			P12315|Q5QNW7|Q92495|Q92663	RNA	SNP	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			RP11-196G18.21	-	-	ENSG00000242663		0.418	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242663	Clone_based_vega_gene	protein_coding	OTTHUMT00000033446.1	-	0.00	37	0	G	NM_000566		149754533	-1	tier1	-	no_errors	ENST00000420462	ensembl	human	known	74_37	rna	17.14	29	6	SNP	0.010	A
RP11-849H4.2	0	genome.wustl.edu	37	11	71629946	71629946	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:71629946C>T	ENST00000529513.1	-	3	366	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	RP11-849H4.2_ENST00000528511.2_Missense_Mutation_p.G89S|RP11-849H4.2_ENST00000529844.1_Missense_Mutation_p.G58S																							TCAATGTAGCCAGTGGGCACT	0.517																																																	0																																										SO:0001583	missense	0																														ENST00000529513.1:c.172G>A	11.37:g.71629946C>T	ENSP00000435060:p.Gly58Ser			Missense_Mutation	SNP	pfam_Xrcc1_N,superfamily_Galactose-bd-like	p.G58S	ENST00000529513.1	37	c.172		11	.	.	.	.	.	.	.	.	.	.	C	5.197	0.221888	0.09863	.	.	ENSG00000254469	ENST00000532852;ENST00000528511;ENST00000530333;ENST00000529844;ENST00000529513;ENST00000533047;ENST00000534704	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.65	0.69	0.18039	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.296354	0.25291	N	0.031734	T	0.08358	0.0208	.	.	.	.	.	.	B	0.18310	0.027	B	0.17433	0.018	T	0.36065	-0.9763	8	0.11182	T	0.66	.	9.3112	0.37905	0.0:0.5596:0.0:0.4404	.	58	Q6ZNB5	TRC2L_HUMAN	S	20;89;58;58;58;58;58	ENSP00000436725:G20S;ENSP00000433080:G58S;ENSP00000435060:G58S;ENSP00000435620:G58S;ENSP00000436412:G58S	ENSP00000434508:G89S	G	-	1	0	RP11-849H4.2	71307594	0.999000	0.42202	0.994000	0.49952	0.627000	0.37826	2.008000	0.40893	0.220000	0.20860	-0.145000	0.13849	GGC	RP11-849H4.2	-	pfam_Xrcc1_N,superfamily_Galactose-bd-like	ENSG00000254469		0.517	RP11-849H4.2-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	ENSG00000254469	Clone_based_vega_gene	protein_coding	OTTHUMT00000394954.1	-	0.00	47	0	C			71629946	-1	tier1	-	no_errors	ENST00000529513	ensembl	human	putative	74_37	missense	14.29	42	7	SNP	0.995	T
RP11-849H4.2	0	genome.wustl.edu	37	11	71629946	71629946	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:71629946C>T	ENST00000529513.1	-	3	366	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	RP11-849H4.2_ENST00000528511.2_Missense_Mutation_p.G89S|RP11-849H4.2_ENST00000529844.1_Missense_Mutation_p.G58S																							TCAATGTAGCCAGTGGGCACT	0.517																																																	0																																										SO:0001583	missense	0																														ENST00000529513.1:c.172G>A	11.37:g.71629946C>T	ENSP00000435060:p.Gly58Ser			Missense_Mutation	SNP	pfam_Xrcc1_N,superfamily_Galactose-bd-like	p.G58S	ENST00000529513.1	37	c.172		11	.	.	.	.	.	.	.	.	.	.	C	5.197	0.221888	0.09863	.	.	ENSG00000254469	ENST00000532852;ENST00000528511;ENST00000530333;ENST00000529844;ENST00000529513;ENST00000533047;ENST00000534704	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.65	0.69	0.18039	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.296354	0.25291	N	0.031734	T	0.08358	0.0208	.	.	.	.	.	.	B	0.18310	0.027	B	0.17433	0.018	T	0.36065	-0.9763	8	0.11182	T	0.66	.	9.3112	0.37905	0.0:0.5596:0.0:0.4404	.	58	Q6ZNB5	TRC2L_HUMAN	S	20;89;58;58;58;58;58	ENSP00000436725:G20S;ENSP00000433080:G58S;ENSP00000435060:G58S;ENSP00000435620:G58S;ENSP00000436412:G58S	ENSP00000434508:G89S	G	-	1	0	RP11-849H4.2	71307594	0.999000	0.42202	0.994000	0.49952	0.627000	0.37826	2.008000	0.40893	0.220000	0.20860	-0.145000	0.13849	GGC	RP11-849H4.2	-	pfam_Xrcc1_N,superfamily_Galactose-bd-like	ENSG00000254469		0.517	RP11-849H4.2-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	ENSG00000254469	Clone_based_vega_gene	protein_coding	OTTHUMT00000394954.1	-	0.00	54	0	C			71629946	-1	tier1	-	no_errors	ENST00000529513	ensembl	human	putative	74_37	missense	14.29	42	7	SNP	0.995	T
KCNC2	3747	genome.wustl.edu	37	12	75435999	75435999	+	3'UTR	SNP	A	A	T	rs201871666|rs7969026	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:75435999A>T	ENST00000549446.1	-	0	3483				KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TTTTTTTTTTAAAGAGTCTAG	0.388													A|||	840	0.167732	0.1483	0.1657	5008	,	,		12841	0.2024		0.0885	False		,,,				2504	0.2413																0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*886T>A	12.37:g.75435999A>T			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	SNP	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.388	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2	-	0.00	38	0	A	NM_153748		75435999	+1	tier1	rs7969026	no_errors	ENST00000547040	ensembl	human	known	74_37	rna	10.81	33	4	SNP	0.000	T
ITPRIPL2	162073	genome.wustl.edu	37	16	19132383	19132383	+	3'UTR	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:19132383A>T	ENST00000381440.3	+	0	7130				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTTTTTTTTAAATCACTTGT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*4992A>T	16.37:g.19132383A>T				RNA	SNP	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-	ENSG00000261759		0.363	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	-	0.00	37	0	A	NM_001034841		19132383	-1	tier1	-	no_errors	ENST00000567236	ensembl	human	known	74_37	rna	8.64	73	7	SNP	0.000	T
ITPRIPL2	162073	genome.wustl.edu	37	16	19132383	19132383	+	3'UTR	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:19132383A>T	ENST00000381440.3	+	0	7130				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTTTTTTTTAAATCACTTGT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*4992A>T	16.37:g.19132383A>T				RNA	SNP	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-	ENSG00000261759		0.363	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	-	0.00	49	0	A	NM_001034841		19132383	-1	tier1	-	no_errors	ENST00000567236	ensembl	human	known	74_37	rna	8.64	73	7	SNP	0.000	T
CHRNB1	1140	genome.wustl.edu	37	17	7348268	7348268	+	5'Flank	SNP	C	C	A	rs550161969		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7348268C>A	ENST00000306071.2	+	0	0				CHRNB1_ENST00000536404.2_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)						behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TGCTGTCTGTCATCTGTCGGT	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139		17.37:g.7348268C>A	Exception_encountered		B7Z5H1|Q8IZ46|Q96FB8	RNA	SNP	-	NULL	ENST00000306071.2	37	NULL	CCDS11106.1	17																																																																																			RP11-104H15.10	-	-	ENSG00000272884		0.597	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272884	Clone_based_vega_gene	protein_coding	OTTHUMT00000226942.3	-	0.00	32	0	C			7348268	+1	tier1	-	no_errors	ENST00000575331	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.755	A
CHRNB1	1140	genome.wustl.edu	37	17	7348268	7348268	+	5'Flank	SNP	C	C	A	rs550161969		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7348268C>A	ENST00000306071.2	+	0	0				CHRNB1_ENST00000536404.2_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)						behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TGCTGTCTGTCATCTGTCGGT	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139		17.37:g.7348268C>A	Exception_encountered		B7Z5H1|Q8IZ46|Q96FB8	RNA	SNP	-	NULL	ENST00000306071.2	37	NULL	CCDS11106.1	17																																																																																			RP11-104H15.10	-	-	ENSG00000272884		0.597	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272884	Clone_based_vega_gene	protein_coding	OTTHUMT00000226942.3	-	0.00	78	0	C			7348268	+1	tier1	-	no_errors	ENST00000575331	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.755	A
BCAS3	54828	genome.wustl.edu	37	17	59147396	59147396	+	Intron	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:59147396G>C	ENST00000390652.5	+	21	2105				RP11-264B14.2_ENST00000593107.1_RNA|BCAS3_ENST00000408905.3_Intron|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000589222.1_Intron|BCAS3_ENST00000407086.3_Intron	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGCGACTCTGGAGACAGCCCA	0.522																																																	0													62.0	68.0	66.0					17																	59147396		2203	4300	6503	SO:0001627	intron_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2075-4885G>C	17.37:g.59147396G>C				RNA	SNP	-	NULL	ENST00000390652.5	37	NULL	CCDS45749.1	17																																																																																			RP11-264B14.1	-	-	ENSG00000267207		0.522	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000267207	Clone_based_vega_gene	protein_coding	OTTHUMT00000449578.1	-	0.00	116	0	G	NM_017679		59147396	-1	tier1	-	no_errors	ENST00000588604	ensembl	human	known	74_37	rna	14.58	82	14	SNP	0.861	C
BCAS3	54828	genome.wustl.edu	37	17	59147396	59147396	+	Intron	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:59147396G>C	ENST00000390652.5	+	21	2105				RP11-264B14.2_ENST00000593107.1_RNA|BCAS3_ENST00000408905.3_Intron|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000589222.1_Intron|BCAS3_ENST00000407086.3_Intron	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGCGACTCTGGAGACAGCCCA	0.522																																																	0													62.0	68.0	66.0					17																	59147396		2203	4300	6503	SO:0001627	intron_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2075-4885G>C	17.37:g.59147396G>C				RNA	SNP	-	NULL	ENST00000390652.5	37	NULL	CCDS45749.1	17																																																																																			RP11-264B14.1	-	-	ENSG00000267207		0.522	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000267207	Clone_based_vega_gene	protein_coding	OTTHUMT00000449578.1	-	0.00	122	0	G	NM_017679		59147396	-1	tier1	-	no_errors	ENST00000588604	ensembl	human	known	74_37	rna	14.58	82	14	SNP	0.861	C
EP400	57634	genome.wustl.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112																4	Substitution - coding silent(4)	prostate(2)|endometrium(1)|kidney(1)											48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2778	ENST00000333577.4	37	c.8334		12																																																																																			EP400	-	NULL	ENSG00000183495		0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0.00	23	0	A	NM_015409		132547138	+1	tier1	rs111782215	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.021	G
EP400	57634	genome.wustl.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2779	ENST00000333577.4	37	c.8337		12																																																																																			EP400	-	NULL	ENSG00000183495		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0.00	24	0	G	NM_015409		132547141	+1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.737	A
EPB41L1	2036	genome.wustl.edu	37	20	34778659	34778659	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:34778659G>A	ENST00000338074.2	+	11	1401	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	EPB41L1_ENST00000373941.1_Missense_Mutation_p.A414T|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A317T|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A352T|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A383T|EPB41L1_ENST00000202028.5_Missense_Mutation_p.A352T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	414					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGACCGGCCTGCACCCTTCTT	0.622																																																	0													56.0	50.0	52.0					20																	34778659		2203	4300	6503	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1240G>A	20.37:g.34778659G>A	ENSP00000337168:p.Ala414Thr		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A414T	ENST00000338074.2	37	c.1240	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.477284	0.96291	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.92270	0.7548	L	0.58354	1.805	0.80722	D	1	P;D;P;D;D;P	0.89917	0.88;1.0;0.725;1.0;0.995;0.88	P;D;B;D;D;P	0.97110	0.771;1.0;0.316;0.998;0.945;0.609	D	0.92922	0.6356	9	0.87932	D	0	.	17.6293	0.88102	0.0:0.0:1.0:0.0	.	414;414;383;317;317;352	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	T	352;317;414;317;352;383;414;414	ENSP00000202028:A352T;ENSP00000363061:A317T;ENSP00000399214:A352T;ENSP00000363057:A383T;ENSP00000337168:A414T;ENSP00000363052:A414T	ENSP00000202028:A352T	A	+	1	0	EPB41L1	34242073	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	9.813000	0.99286	2.556000	0.86216	0.561000	0.74099	GCA	EPB41L1	-	pfam_FERM-adjacent,pirsf_Band_41_protein	ENSG00000088367		0.622	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0.00	45	0	G	NM_012156		34778659	+1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	A
EPB41L1	2036	genome.wustl.edu	37	20	34778659	34778659	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:34778659G>A	ENST00000338074.2	+	11	1401	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	EPB41L1_ENST00000373941.1_Missense_Mutation_p.A414T|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A317T|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A352T|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A383T|EPB41L1_ENST00000202028.5_Missense_Mutation_p.A352T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	414					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGACCGGCCTGCACCCTTCTT	0.622																																																	0													56.0	50.0	52.0					20																	34778659		2203	4300	6503	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1240G>A	20.37:g.34778659G>A	ENSP00000337168:p.Ala414Thr		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A414T	ENST00000338074.2	37	c.1240	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.477284	0.96291	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.92270	0.7548	L	0.58354	1.805	0.80722	D	1	P;D;P;D;D;P	0.89917	0.88;1.0;0.725;1.0;0.995;0.88	P;D;B;D;D;P	0.97110	0.771;1.0;0.316;0.998;0.945;0.609	D	0.92922	0.6356	9	0.87932	D	0	.	17.6293	0.88102	0.0:0.0:1.0:0.0	.	414;414;383;317;317;352	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	T	352;317;414;317;352;383;414;414	ENSP00000202028:A352T;ENSP00000363061:A317T;ENSP00000399214:A352T;ENSP00000363057:A383T;ENSP00000337168:A414T;ENSP00000363052:A414T	ENSP00000202028:A352T	A	+	1	0	EPB41L1	34242073	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	9.813000	0.99286	2.556000	0.86216	0.561000	0.74099	GCA	EPB41L1	-	pfam_FERM-adjacent,pirsf_Band_41_protein	ENSG00000088367		0.622	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0.00	57	0	G	NM_012156		34778659	+1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	A
EPB41L4B	54566	genome.wustl.edu	37	9	111970305	111970305	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111970305T>C	ENST00000374566.3	-	18	2294	c.1777A>G	c.(1777-1779)Aaa>Gaa	p.K593E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	593					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAGAGTTTTCTCCGAGACT	0.413																																																	0													99.0	92.0	94.0					9																	111970305		1832	4100	5932	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1777A>G	9.37:g.111970305T>C	ENSP00000363694:p.Lys593Glu		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K593E	ENST00000374566.3	37	c.1777	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621591	0.87460	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.89123	-2.47	5.49	5.49	0.81192	.	0.000000	0.41938	D	0.000783	D	0.91005	0.7171	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	D	0.91700	0.5373	10	0.66056	D	0.02	.	13.5761	0.61875	0.0:0.0:0.0:1.0	.	593	Q9H329	E41LB_HUMAN	E	278;593	ENSP00000363694:K593E	ENSP00000262536:K278E	K	-	1	0	EPB41L4B	111010126	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.115000	0.64655	2.090000	0.63153	0.459000	0.35465	AAA	EPB41L4B	-	NULL	ENSG00000095203		0.413	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0.00	53	0	T	NM_018424		111970305	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	C
EPB41L4B	54566	genome.wustl.edu	37	9	111970305	111970305	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111970305T>C	ENST00000374566.3	-	18	2294	c.1777A>G	c.(1777-1779)Aaa>Gaa	p.K593E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	593					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAGAGTTTTCTCCGAGACT	0.413																																																	0													99.0	92.0	94.0					9																	111970305		1832	4100	5932	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1777A>G	9.37:g.111970305T>C	ENSP00000363694:p.Lys593Glu		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K593E	ENST00000374566.3	37	c.1777	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621591	0.87460	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.89123	-2.47	5.49	5.49	0.81192	.	0.000000	0.41938	D	0.000783	D	0.91005	0.7171	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	D	0.91700	0.5373	10	0.66056	D	0.02	.	13.5761	0.61875	0.0:0.0:0.0:1.0	.	593	Q9H329	E41LB_HUMAN	E	278;593	ENSP00000363694:K593E	ENSP00000262536:K278E	K	-	1	0	EPB41L4B	111010126	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.115000	0.64655	2.090000	0.63153	0.459000	0.35465	AAA	EPB41L4B	-	NULL	ENSG00000095203		0.413	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0.00	71	0	T	NM_018424		111970305	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	C
EPHA4	2043	genome.wustl.edu	37	2	222347086	222347086	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:222347086G>A	ENST00000281821.2	-	5	1345	c.1304C>T	c.(1303-1305)aCc>aTc	p.T435I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T384I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T435I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T435I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	435	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGGTTGGTGGTCACAGTGAC	0.363																																																	0													158.0	155.0	156.0					2																	222347086		2203	4300	6503	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1304C>T	2.37:g.222347086G>A	ENSP00000281821:p.Thr435Ile		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T435I	ENST00000281821.2	37	c.1304	CCDS2447.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922800|4.922800	0.92319|0.92319	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77287|0.77287	0.4108|0.4108	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.78494|0.78494	-0.2182|-0.2182	5|10	.|0.87932	.|D	.|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|435	.|P54764	.|EPHA4_HUMAN	S|I	172|435;435;435;384;139	.|ENSP00000281821:T435I;ENSP00000386276:T435I;ENSP00000386829:T435I;ENSP00000375923:T384I;ENSP00000395917:T139I	.|ENSP00000281821:T435I	P|T	-|-	1|2	0|0	EPHA4|EPHA4	222055330|222055330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.793000|9.793000	0.99091|0.99091	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCA|ACC	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3	ENSG00000116106		0.363	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0.00	84	0	G			222347086	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	A
EPHA5	2044	genome.wustl.edu	37	4	66230835	66230835	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:66230835G>T	ENST00000273854.3	-	12	2736	c.2136C>A	c.(2134-2136)ggC>ggA	p.G712G	EPHA5_ENST00000354839.4_Silent_p.G690G|EPHA5_ENST00000432638.2_Silent_p.G549G|EPHA5_ENST00000511294.1_Silent_p.G713G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTCAGTATAGCCTACTTTAA	0.393										TSP Lung(17;0.13)																																							0													206.0	203.0	204.0					4																	66230835		2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2136C>A	4.37:g.66230835G>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G712	ENST00000273854.3	37	c.2136	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom	ENSG00000145242		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	108	0	G	NM_004439		66230835	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	6.47	130	9	SNP	0.803	T
EPHA5	2044	genome.wustl.edu	37	4	66230835	66230835	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:66230835G>T	ENST00000273854.3	-	12	2736	c.2136C>A	c.(2134-2136)ggC>ggA	p.G712G	EPHA5_ENST00000354839.4_Silent_p.G690G|EPHA5_ENST00000432638.2_Silent_p.G549G|EPHA5_ENST00000511294.1_Silent_p.G713G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTCAGTATAGCCTACTTTAA	0.393										TSP Lung(17;0.13)																																							0													206.0	203.0	204.0					4																	66230835		2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2136C>A	4.37:g.66230835G>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G712	ENST00000273854.3	37	c.2136	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom	ENSG00000145242		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	99	0	G	NM_004439		66230835	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	6.47	130	9	SNP	0.803	T
EPHA5	2044	genome.wustl.edu	37	4	66356133	66356133	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:66356133C>T	ENST00000273854.3	-	5	1964	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.R455Q|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R455Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	455	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACATACTGCCGGGCTCCTGG	0.458										TSP Lung(17;0.13)																																							0													88.0	73.0	78.0					4																	66356133		2203	4300	6503	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1364G>A	4.37:g.66356133C>T	ENSP00000273854:p.Arg455Gln		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R455Q	ENST00000273854.3	37	c.1364	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026764	0.54683	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.73152	-0.72;-0.69;-0.69	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.56097	D	0.000040	T	0.71151	0.3306	M	0.62266	1.93	0.43110	D	0.994814	B;B;B;B	0.27229	0.107;0.046;0.172;0.148	B;B;B;B	0.27887	0.038;0.011;0.084;0.019	T	0.65240	-0.6216	10	0.29301	T	0.29	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	455;455;455;455	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	455	ENSP00000273854:R455Q;ENSP00000346899:R455Q;ENSP00000427638:R455Q	ENSP00000273854:R455Q	R	-	2	0	EPHA5	66038728	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.176000	0.50863	2.894000	0.99253	0.591000	0.81541	CGG	EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3	ENSG00000145242		0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0.00	51	0	C	NM_004439		66356133	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
EPHB4	2050	genome.wustl.edu	37	7	100403299	100403299	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100403299T>A	ENST00000358173.3	-	15	2970	c.2502A>T	c.(2500-2502)gaA>gaT	p.E834D	EPHB4_ENST00000360620.3_Missense_Mutation_p.E834D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTAGTCCTGTTCAATGGCAT	0.587																																					GBM(200;2113 3072 25865 52728)												0													50.0	55.0	53.0					7																	100403299		2202	4300	6502	SO:0001583	missense	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2502A>T	7.37:g.100403299T>A	ENSP00000350896:p.Glu834Asp		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E834D	ENST00000358173.3	37	c.2502	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411311	0.62399	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83419	-1.72;-1.72	4.95	-2.7	0.06004	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000110	T	0.81781	0.4895	N	0.25332	0.735	0.47407	D	0.99941	D;D	0.65815	0.967;0.995	P;D	0.77004	0.805;0.989	T	0.78048	-0.2356	10	0.42905	T	0.14	.	11.6996	0.51562	0.0:0.6252:0.0:0.3748	.	834;834	Q96L35;P54760	.;EPHB4_HUMAN	D	834	ENSP00000353833:E834D;ENSP00000350896:E834D	ENSP00000350896:E834D	E	-	3	2	EPHB4	100241235	0.620000	0.27068	0.996000	0.52242	0.852000	0.48524	-0.134000	0.10436	-0.251000	0.09542	0.379000	0.24179	GAA	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196411		0.587	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	-	0.00	109	0	T	NM_004444		100403299	-1	tier1	-	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.993	A
EPHB4	2050	genome.wustl.edu	37	7	100403299	100403299	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100403299T>A	ENST00000358173.3	-	15	2970	c.2502A>T	c.(2500-2502)gaA>gaT	p.E834D	EPHB4_ENST00000360620.3_Missense_Mutation_p.E834D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTAGTCCTGTTCAATGGCAT	0.587																																					GBM(200;2113 3072 25865 52728)												0													50.0	55.0	53.0					7																	100403299		2202	4300	6502	SO:0001583	missense	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2502A>T	7.37:g.100403299T>A	ENSP00000350896:p.Glu834Asp		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E834D	ENST00000358173.3	37	c.2502	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411311	0.62399	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83419	-1.72;-1.72	4.95	-2.7	0.06004	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000110	T	0.81781	0.4895	N	0.25332	0.735	0.47407	D	0.99941	D;D	0.65815	0.967;0.995	P;D	0.77004	0.805;0.989	T	0.78048	-0.2356	10	0.42905	T	0.14	.	11.6996	0.51562	0.0:0.6252:0.0:0.3748	.	834;834	Q96L35;P54760	.;EPHB4_HUMAN	D	834	ENSP00000353833:E834D;ENSP00000350896:E834D	ENSP00000350896:E834D	E	-	3	2	EPHB4	100241235	0.620000	0.27068	0.996000	0.52242	0.852000	0.48524	-0.134000	0.10436	-0.251000	0.09542	0.379000	0.24179	GAA	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196411		0.587	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	-	0.00	48	0	T	NM_004444		100403299	-1	tier1	-	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.993	A
ERC1	23085	genome.wustl.edu	37	12	1399080	1399080	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1399080G>T	ENST00000397203.2	+	15	3088	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ERC1_ENST00000546231.2_Missense_Mutation_p.K898N|ERC1_ENST00000355446.5_Missense_Mutation_p.K894N|ERC1_ENST00000360905.4_Missense_Mutation_p.K894N|ERC1_ENST00000589028.1_Missense_Mutation_p.K894N|ERC1_ENST00000543086.3_Missense_Mutation_p.K866N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	894					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGAAAGCAAAGCTGTCCTCCA	0.448																																																	0													128.0	113.0	118.0					12																	1399080		2203	4300	6503	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2682G>T	12.37:g.1399080G>T	ENSP00000380386:p.Lys894Asn		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.K894N	ENST00000397203.2	37	c.2682	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849145	0.71603	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.67	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.39633	1.23	0.58432	D	0.999992	P;D;D;D	0.89917	0.906;1.0;1.0;0.974	P;D;D;P	0.85130	0.71;0.997;0.997;0.828	T	0.38824	-0.9643	10	0.23891	T	0.37	-32.3979	9.9843	0.41832	0.3583:0.0:0.6417:0.0	.	602;870;866;894	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	N	826;894;870;826;598;866;870;598;894;894;894;870;602	ENSP00000340054:K826N;ENSP00000380386:K894N;ENSP00000438546:K866N;ENSP00000442976:K598N;ENSP00000347621:K894N;ENSP00000354158:K894N;ENSP00000410064:K870N	ENSP00000299183:K598N	K	+	3	2	ERC1	1269341	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.094000	0.30951	0.072000	0.16694	-0.140000	0.14226	AAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.448	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	-	0.00	65	0	G	NM_015064		1399080	+1	tier1	-	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	13.64	76	12	SNP	1.000	T
ERC1	23085	genome.wustl.edu	37	12	1399080	1399080	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:1399080G>T	ENST00000397203.2	+	15	3088	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ERC1_ENST00000546231.2_Missense_Mutation_p.K898N|ERC1_ENST00000355446.5_Missense_Mutation_p.K894N|ERC1_ENST00000360905.4_Missense_Mutation_p.K894N|ERC1_ENST00000589028.1_Missense_Mutation_p.K894N|ERC1_ENST00000543086.3_Missense_Mutation_p.K866N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	894					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGAAAGCAAAGCTGTCCTCCA	0.448																																																	0													128.0	113.0	118.0					12																	1399080		2203	4300	6503	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2682G>T	12.37:g.1399080G>T	ENSP00000380386:p.Lys894Asn		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.K894N	ENST00000397203.2	37	c.2682	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849145	0.71603	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.67	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.39633	1.23	0.58432	D	0.999992	P;D;D;D	0.89917	0.906;1.0;1.0;0.974	P;D;D;P	0.85130	0.71;0.997;0.997;0.828	T	0.38824	-0.9643	10	0.23891	T	0.37	-32.3979	9.9843	0.41832	0.3583:0.0:0.6417:0.0	.	602;870;866;894	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	N	826;894;870;826;598;866;870;598;894;894;894;870;602	ENSP00000340054:K826N;ENSP00000380386:K894N;ENSP00000438546:K866N;ENSP00000442976:K598N;ENSP00000347621:K894N;ENSP00000354158:K894N;ENSP00000410064:K870N	ENSP00000299183:K598N	K	+	3	2	ERC1	1269341	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.094000	0.30951	0.072000	0.16694	-0.140000	0.14226	AAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.448	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	-	0.00	81	0	G	NM_015064		1399080	+1	tier1	-	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	13.64	76	12	SNP	1.000	T
ERVW-1	30816	genome.wustl.edu	37	7	92099221	92099221	+	Missense_Mutation	SNP	G	G	A	rs201142302		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:92099221G>A	ENST00000493463.2	-	1	1398	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	ERVW-1_ENST00000603053.1_Missense_Mutation_p.R159C|ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	159					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						gtatgggtacggagggtttca	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19921	0.0		0.0	False		,,,				2504	0.001																0													37.0	42.0	40.0					7																	92099221		2202	4296	6498	SO:0001583	missense	0			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.475C>T	7.37:g.92099221G>A	ENSP00000419945:p.Arg159Cys		B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.R159C	ENST00000493463.2	37	c.475	CCDS5626.1	7	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421612	0.43020	.	.	ENSG00000242950	ENST00000493463	T	0.17854	2.25	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.15565	0.0375	L	0.38175	1.15	0.19775	N	0.99995	.	.	.	.	.	.	T	0.28902	-1.0029	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	C	159	ENSP00000419945:R159C	ENSP00000419945:R159C	R	-	1	0	ERVW-1	91937157	0.310000	0.24527	0.385000	0.26158	0.388000	0.30384	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	CGT	ERVW-1	-	pfam_TLV/ENV_coat_polyprotein	ENSG00000242950		0.488	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVW-1	HGNC	protein_coding	OTTHUMT00000254009.2		0.00	70	0	G	NM_014590		92099221	-1			no_errors	ENST00000493463	ensembl	human	known	74_37	missense	12.68	62	9	SNP	0.415	A
EXD2	55218	genome.wustl.edu	37	14	69704507	69704507	+	Missense_Mutation	SNP	G	G	A	rs138036015		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:69704507G>A	ENST00000409018.3	+	8	1636	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	EXD2_ENST00000312994.5_Missense_Mutation_p.R503H|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Missense_Mutation_p.R378H|EXD2_ENST00000409675.1_Missense_Mutation_p.R378H|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.R378H|EXD2_ENST00000409949.1_Missense_Mutation_p.R378H|EXD2_ENST00000449989.1_Missense_Mutation_p.R378H	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	503							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CGGCAGGTGCGTTCTGGGGCC	0.617																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	21.0	21.0	21.0		1508,1508,1508,1508,1133	5.5	1.0	14	dbSNP_134	21	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	EXD2	NM_001193360.1,NM_001193361.1,NM_001193362.1,NM_001193363.1,NM_018199.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	503/622,503/622,503/622,503/622,378/497	69704507	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1508G>A	14.37:g.69704507G>A	ENSP00000387331:p.Arg503His		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R503H	ENST00000409018.3	37	c.1508	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.477440	0.96291	0.0	1.16E-4	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.69561	-0.08;-0.41;-0.41;-0.41;-0.41;-0.08;-0.41	5.51	5.51	0.81932	.	0.044830	0.85682	D	0.000000	T	0.76478	0.3993	M	0.72118	2.19	0.80722	D	1	D;D;D	0.57899	0.975;0.981;0.981	P;B;B	0.51806	0.68;0.284;0.332	T	0.79122	-0.1933	10	0.87932	D	0	-14.1201	19.61	0.95602	0.0:0.0:1.0:0.0	.	503;378;378	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	H	503;378;378;378;378;503;378	ENSP00000387331:R503H;ENSP00000386915:R378H;ENSP00000386762:R378H;ENSP00000386632:R378H;ENSP00000386839:R378H;ENSP00000313140:R503H;ENSP00000392177:R378H	ENSP00000313140:R503H	R	+	2	0	EXD2	68774260	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.978000	0.93450	2.868000	0.98415	0.557000	0.71058	CGT	EXD2	-	NULL	ENSG00000081177		0.617	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0.00	29	0	G			69704507	+1	tier1	rs138036015	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
EXD2	55218	genome.wustl.edu	37	14	69704507	69704507	+	Missense_Mutation	SNP	G	G	A	rs138036015		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:69704507G>A	ENST00000409018.3	+	8	1636	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	EXD2_ENST00000312994.5_Missense_Mutation_p.R503H|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Missense_Mutation_p.R378H|EXD2_ENST00000409675.1_Missense_Mutation_p.R378H|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.R378H|EXD2_ENST00000409949.1_Missense_Mutation_p.R378H|EXD2_ENST00000449989.1_Missense_Mutation_p.R378H	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	503							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CGGCAGGTGCGTTCTGGGGCC	0.617																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	21.0	21.0	21.0		1508,1508,1508,1508,1133	5.5	1.0	14	dbSNP_134	21	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	EXD2	NM_001193360.1,NM_001193361.1,NM_001193362.1,NM_001193363.1,NM_018199.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	503/622,503/622,503/622,503/622,378/497	69704507	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1508G>A	14.37:g.69704507G>A	ENSP00000387331:p.Arg503His		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R503H	ENST00000409018.3	37	c.1508	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.477440	0.96291	0.0	1.16E-4	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.69561	-0.08;-0.41;-0.41;-0.41;-0.41;-0.08;-0.41	5.51	5.51	0.81932	.	0.044830	0.85682	D	0.000000	T	0.76478	0.3993	M	0.72118	2.19	0.80722	D	1	D;D;D	0.57899	0.975;0.981;0.981	P;B;B	0.51806	0.68;0.284;0.332	T	0.79122	-0.1933	10	0.87932	D	0	-14.1201	19.61	0.95602	0.0:0.0:1.0:0.0	.	503;378;378	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	H	503;378;378;378;378;503;378	ENSP00000387331:R503H;ENSP00000386915:R378H;ENSP00000386762:R378H;ENSP00000386632:R378H;ENSP00000386839:R378H;ENSP00000313140:R503H;ENSP00000392177:R378H	ENSP00000313140:R503H	R	+	2	0	EXD2	68774260	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.978000	0.93450	2.868000	0.98415	0.557000	0.71058	CGT	EXD2	-	NULL	ENSG00000081177		0.617	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0.00	48	0	G			69704507	+1	tier1	rs138036015	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
EXOSC4	54512	genome.wustl.edu	37	8	145135027	145135027	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:145135027G>A	ENST00000316052.5	+	2	456	c.353G>A	c.(352-354)cGc>cAc	p.R118H	GPAA1_ENST00000355091.4_5'Flank|EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	118					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCACCCACGCTCCCAGATT	0.597																																																	0													50.0	40.0	43.0					8																	145135027		2203	4300	6503	SO:0001583	missense	0			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.353G>A	8.37:g.145135027G>A	ENSP00000315476:p.Arg118His			Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.R118H	ENST00000316052.5	37	c.353	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278443	0.80692	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.64991	-0.13;-0.13	5.05	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.61036	1.89	0.80722	D	1	P	0.49358	0.923	B	0.40066	0.318	T	0.67669	-0.5611	10	0.56958	D	0.05	-15.4044	15.8797	0.79195	0.0:0.0:1.0:0.0	.	118	Q9NPD3	EXOS4_HUMAN	H	118;141	ENSP00000315476:R118H;ENSP00000436539:R141H	ENSP00000315476:R118H	R	+	2	0	EXOSC4	145207015	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.312000	0.96287	2.345000	0.79718	0.561000	0.74099	CGC	EXOSC4	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000178896		0.597	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	HGNC	protein_coding	OTTHUMT00000384065.1	-	0.00	38	0	G	NM_019037		145135027	+1	tier1	-	no_errors	ENST00000316052	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A
AC026369.1	0	genome.wustl.edu	37	12	147969	147969	+	IGR	DEL	T	T	-	rs199686077	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:147969delT	ENST00000594563.1	+	0	129				FAM138D_ENST00000320165.5_lincRNA																							acaatggaagtttatttctca	0.408													|||unknown(NO_COVERAGE)	1693	0.338059	0.3638	0.3487	5008	,	,		33777	0.2589		0.3668	False		,,,				2504	0.3476																0																																										SO:0001628	intergenic_variant	0																															12.37:g.147969delT				RNA	DEL	-	NULL	ENST00000594563.1	37	NULL		12																																																																																			FAM138D	-	-	ENSG00000206114		0.408	AC026369.1-201	NOVEL	basic|appris_principal	protein_coding	FAM138D	HGNC	protein_coding			0.00	8	0	T			147969	-1	tier1		no_errors	ENST00000320165	ensembl	human	known	74_37	rna	40.00	12	8	DEL	0.003	-
FAM13A	10144	genome.wustl.edu	37	4	89941735	89941735	+	Silent	SNP	G	G	T	rs545352886	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:89941735G>T	ENST00000264344.5	-	3	510	c.303C>A	c.(301-303)ccC>ccA	p.P101P	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Silent_p.P101P|FAM13A_ENST00000515600.1_Silent_p.P101P|FAM13A_ENST00000511976.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	101	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CGAGCTCCACGGGCACTCCAC	0.532																																																	0													84.0	77.0	79.0					4																	89941735		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.303C>A	4.37:g.89941735G>T			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P101	ENST00000264344.5	37	c.303	CCDS34029.1	4																																																																																			FAM13A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000138640		0.532	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1		0.00	54	0	G			89941735	-1			no_errors	ENST00000264344	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.001	T
FAM13C	220965	genome.wustl.edu	37	10	61043173	61043173	+	Missense_Mutation	SNP	G	G	A	rs374540049		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:61043173G>A	ENST00000373868.2	-	6	629	c.542C>T	c.(541-543)cCg>cTg	p.P181L	FAM13C_ENST00000373867.3_Missense_Mutation_p.P98L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P202L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P202L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P181L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P181L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P181L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P98L|RP11-443O13.3_ENST00000433249.1_RNA	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	181										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTGGCGCCGGGTCCTTGAC	0.522																																																	0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	161.0	157.0	158.0		542,293,293,542	3.0	0.0	10		158	0,8600		0,0,4300	no	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	181/488,98/503,98/502,181/586	61043173	1,13005	2203	4300	6503	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.542C>T	10.37:g.61043173G>A	ENSP00000362975:p.Pro181Leu		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.P181L	ENST00000373868.2	37	c.542	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664969	0.29604	2.27E-4	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.76709	-1.04;0.97;-1.01;-1.01;0.94;-1.04;0.93;0.93	4.85	3.0	0.34707	.	0.173472	0.39985	N	0.001214	T	0.81987	0.4939	M	0.66939	2.045	0.26352	N	0.977199	P;D;D;P;P	0.76494	0.91;0.999;0.973;0.695;0.91	B;P;B;B;B	0.57425	0.409;0.82;0.432;0.231;0.263	T	0.74028	-0.3796	10	0.59425	D	0.04	-1.5177	10.0998	0.42497	0.0723:0.0:0.791:0.1366	.	181;98;181;181;181	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	98;181;202;202;181;98;181;181	ENSP00000362974:P98L;ENSP00000362975:P181L;ENSP00000395661:P202L;ENSP00000277705:P202L;ENSP00000391993:P181L;ENSP00000423896:P98L;ENSP00000392302:P181L;ENSP00000400241:P181L	ENSP00000277705:P202L	P	-	2	0	FAM13C	60713179	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.278000	0.51662	0.568000	0.29311	-1.059000	0.02297	CCG	FAM13C	-	NULL	ENSG00000148541		0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	-	0.00	67	0	G			61043173	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.215	A
FAM160A2	84067	genome.wustl.edu	37	11	6238867	6238867	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:6238867C>T	ENST00000449352.2	-	9	2212	c.1949G>A	c.(1948-1950)cGt>cAt	p.R650H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R650H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R664H|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	650					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCACCAGACGAACCTTCTT	0.667																																																	0													60.0	63.0	62.0					11																	6238867		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1949G>A	11.37:g.6238867C>T	ENSP00000416918:p.Arg650His		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.R664H	ENST00000449352.2	37	c.1991	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531253	0.64972	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.65178	-0.14;-0.14;-0.14	5.31	5.31	0.75309	.	0.451136	0.23281	N	0.049918	T	0.67392	0.2888	L	0.43152	1.355	0.33545	D	0.595382	D;B;D	0.76494	0.999;0.241;0.998	P;B;P	0.57101	0.813;0.011;0.784	T	0.74453	-0.3660	10	0.46703	T	0.11	-15.1482	14.3414	0.66630	0.0:1.0:0.0:0.0	.	650;650;664	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	650;575;664;650	ENSP00000416918:R650H;ENSP00000265978:R664H;ENSP00000431773:R650H	ENSP00000265978:R664H	R	-	2	0	FAM160A2	6195443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.909000	0.48758	2.768000	0.95171	0.561000	0.74099	CGT	FAM160A2	-	NULL	ENSG00000051009		0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0.00	19	0	C	NM_032127		6238867	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T
FAM208B	54906	genome.wustl.edu	37	10	5789017	5789017	+	Silent	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:5789017C>G	ENST00000328090.5	+	15	4258	c.3633C>G	c.(3631-3633)gcC>gcG	p.A1211A	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1211																	CATCATCAGCCTCTACCACCT	0.473																																																	0													87.0	88.0	88.0					10																	5789017		2021	4202	6223	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3633C>G	10.37:g.5789017C>G			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.A1211	ENST00000328090.5	37	c.3633	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2		0.00	21	0	C	NM_017782		5789017	+1			no_errors	ENST00000328090	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.027	G
FAM84B	157638	genome.wustl.edu	37	8	127565206	127565206	+	3'UTR	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:127565206G>C	ENST00000304916.3	-	0	4884				FAM84B_ENST00000517458.1_5'UTR	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CAACACAGTGGATTCCATTTT	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.*3496C>G	8.37:g.127565206G>C				RNA	SNP	-	NULL	ENST00000304916.3	37	NULL	CCDS6358.1	8																																																																																			FAM84B	-	-	ENSG00000168672		0.274	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0.00	77	0	G	NM_174911		127565206	-1	tier1	-	no_errors	ENST00000517458	ensembl	human	known	74_37	rna	8.00	92	8	SNP	1.000	C
FAM84B	157638	genome.wustl.edu	37	8	127565206	127565206	+	3'UTR	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:127565206G>C	ENST00000304916.3	-	0	4884				FAM84B_ENST00000517458.1_5'UTR	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CAACACAGTGGATTCCATTTT	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.*3496C>G	8.37:g.127565206G>C				RNA	SNP	-	NULL	ENST00000304916.3	37	NULL	CCDS6358.1	8																																																																																			FAM84B	-	-	ENSG00000168672		0.274	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0.00	97	0	G	NM_174911		127565206	-1	tier1	-	no_errors	ENST00000517458	ensembl	human	known	74_37	rna	8.00	92	8	SNP	1.000	C
FAM84B	157638	genome.wustl.edu	37	8	127565233	127565233	+	3'UTR	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:127565233G>C	ENST00000304916.3	-	0	4857				FAM84B_ENST00000517458.1_5'UTR	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AAAAAAAATAGAAAACAAGTA	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.*3469C>G	8.37:g.127565233G>C				RNA	SNP	-	NULL	ENST00000304916.3	37	NULL	CCDS6358.1	8																																																																																			FAM84B	-	-	ENSG00000168672		0.279	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0.00	47	0	G	NM_174911		127565233	-1	tier1	-	no_errors	ENST00000517458	ensembl	human	known	74_37	rna	10.13	71	8	SNP	1.000	C
FAM84B	157638	genome.wustl.edu	37	8	127565233	127565233	+	3'UTR	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:127565233G>C	ENST00000304916.3	-	0	4857				FAM84B_ENST00000517458.1_5'UTR	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			AAAAAAAATAGAAAACAAGTA	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.*3469C>G	8.37:g.127565233G>C				RNA	SNP	-	NULL	ENST00000304916.3	37	NULL	CCDS6358.1	8																																																																																			FAM84B	-	-	ENSG00000168672		0.279	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0.00	70	0	G	NM_174911		127565233	-1	tier1	-	no_errors	ENST00000517458	ensembl	human	known	74_37	rna	10.13	71	8	SNP	1.000	C
FAN1	22909	genome.wustl.edu	37	15	31214550	31214550	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:31214550T>C	ENST00000362065.4	+	8	2456	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	722					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTGAAGCGCCTGGAACCGGTA	0.388								Direct reversal of damage																																									0													92.0	91.0	92.0					15																	31214550		2202	4300	6502	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2165T>C	15.37:g.31214550T>C	ENSP00000354497:p.Leu722Pro		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.L722P	ENST00000362065.4	37	c.2165	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519975	0.27211	.	.	ENSG00000198690	ENST00000362065	D	0.98381	-4.9	5.6	2.05	0.26809	.	0.392352	0.25572	N	0.029746	D	0.93370	0.7886	N	0.16307	0.4	0.20926	N	0.999826	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	D	0.85125	0.0971	10	0.25751	T	0.34	-7.8945	8.557	0.33487	0.0:0.4558:0.0:0.5442	.	722;722	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	P	722	ENSP00000354497:L722P	ENSP00000354497:L722P	L	+	2	0	FAN1	29001842	0.152000	0.22762	0.861000	0.33841	0.954000	0.61252	0.693000	0.25497	0.098000	0.17522	-0.376000	0.06991	CTG	FAN1	-	NULL	ENSG00000198690		0.388	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	-	0.00	57	0	T	NM_014967		31214550	+1	tier1	-	no_errors	ENST00000362065	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.169	C
FAN1	22909	genome.wustl.edu	37	15	31214550	31214550	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:31214550T>C	ENST00000362065.4	+	8	2456	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	722					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTGAAGCGCCTGGAACCGGTA	0.388								Direct reversal of damage																																									0													92.0	91.0	92.0					15																	31214550		2202	4300	6502	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2165T>C	15.37:g.31214550T>C	ENSP00000354497:p.Leu722Pro		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.L722P	ENST00000362065.4	37	c.2165	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519975	0.27211	.	.	ENSG00000198690	ENST00000362065	D	0.98381	-4.9	5.6	2.05	0.26809	.	0.392352	0.25572	N	0.029746	D	0.93370	0.7886	N	0.16307	0.4	0.20926	N	0.999826	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	D	0.85125	0.0971	10	0.25751	T	0.34	-7.8945	8.557	0.33487	0.0:0.4558:0.0:0.5442	.	722;722	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	P	722	ENSP00000354497:L722P	ENSP00000354497:L722P	L	+	2	0	FAN1	29001842	0.152000	0.22762	0.861000	0.33841	0.954000	0.61252	0.693000	0.25497	0.098000	0.17522	-0.376000	0.06991	CTG	FAN1	-	NULL	ENSG00000198690		0.388	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	-	0.00	61	0	T	NM_014967		31214550	+1	tier1	-	no_errors	ENST00000362065	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.169	C
FBXL20	84961	genome.wustl.edu	37	17	37441733	37441733	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:37441733C>T	ENST00000264658.6	-	7	752	c.492G>A	c.(490-492)ctG>ctA	p.L164L	FBXL20_ENST00000394294.3_Intron|FBXL20_ENST00000583610.1_Silent_p.L164L|FBXL20_ENST00000577399.1_Silent_p.L166L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	164					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AAATTTACCTCAGAGCTTTTA	0.313																																																	0													60.0	61.0	61.0					17																	37441733		2203	4299	6502	SO:0001819	synonymous_variant	0			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.492G>A	17.37:g.37441733C>T			A8K729|Q38J52	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.L164	ENST00000264658.6	37	c.492	CCDS32640.1	17																																																																																			FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000108306		0.313	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	-	0.00	104	0	C	NM_032875		37441733	-1	tier1	-	no_errors	ENST00000264658	ensembl	human	known	74_37	silent	7.86	128	11	SNP	0.998	T
FBXL20	84961	genome.wustl.edu	37	17	37441733	37441733	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:37441733C>T	ENST00000264658.6	-	7	752	c.492G>A	c.(490-492)ctG>ctA	p.L164L	FBXL20_ENST00000394294.3_Intron|FBXL20_ENST00000583610.1_Silent_p.L164L|FBXL20_ENST00000577399.1_Silent_p.L166L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	164					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AAATTTACCTCAGAGCTTTTA	0.313																																																	0													60.0	61.0	61.0					17																	37441733		2203	4299	6502	SO:0001819	synonymous_variant	0			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.492G>A	17.37:g.37441733C>T			A8K729|Q38J52	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.L164	ENST00000264658.6	37	c.492	CCDS32640.1	17																																																																																			FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000108306		0.313	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	-	0.00	154	0	C	NM_032875		37441733	-1	tier1	-	no_errors	ENST00000264658	ensembl	human	known	74_37	silent	7.86	128	11	SNP	0.998	T
FCGBP	8857	genome.wustl.edu	37	19	40408618	40408618	+	Silent	SNP	T	T	C	rs150256945	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40408618T>C	ENST00000221347.6	-	8	4228	c.4221A>G	c.(4219-4221)tcA>tcG	p.S1407S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1407	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCTGCCTGTGAGCCATTGG	0.642													T|||	4	0.000798722	0.0015	0.0014	5008	,	,		19055	0.0		0.0	False		,,,				2504	0.001																0													108.0	98.0	101.0					19																	40408618		2203	4300	6503	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4221A>G	19.37:g.40408618T>C			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S1407	ENST00000221347.6	37	c.4221	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D	ENSG00000090920		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	176	0	T	NM_003890		40408618	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	10.84	181	22	SNP	0.000	C
FCGBP	8857	genome.wustl.edu	37	19	40408618	40408618	+	Silent	SNP	T	T	C	rs150256945	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40408618T>C	ENST00000221347.6	-	8	4228	c.4221A>G	c.(4219-4221)tcA>tcG	p.S1407S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1407	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCTGCCTGTGAGCCATTGG	0.642													T|||	4	0.000798722	0.0015	0.0014	5008	,	,		19055	0.0		0.0	False		,,,				2504	0.001																0													108.0	98.0	101.0					19																	40408618		2203	4300	6503	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4221A>G	19.37:g.40408618T>C			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S1407	ENST00000221347.6	37	c.4221	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D	ENSG00000090920		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	225	0	T	NM_003890		40408618	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	10.84	181	22	SNP	0.000	C
FDPS	2224	genome.wustl.edu	37	1	155288467	155288467	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:155288467G>A	ENST00000356657.6	+	7	858	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q166Q|FDPS_ENST00000368356.4_Silent_p.Q232Q	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	232					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GTTCCTATCAGACTGAGATTG	0.542																																																	0													62.0	61.0	61.0					1																	155288467		2203	4300	6503	SO:0001819	synonymous_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.696G>A	1.37:g.155288467G>A			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q232	ENST00000356657.6	37	c.696	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	-	0.00	78	0	G	NM_002004		155288467	+1	tier1	-	no_errors	ENST00000356657	ensembl	human	known	74_37	silent	13.16	66	10	SNP	1.000	A
FCRL6	343413	genome.wustl.edu	37	1	159785374	159785374	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:159785374G>T	ENST00000368106.3	+	10	1229	c.1228G>T	c.(1228-1230)Gtt>Ttt	p.V410F	FCRL6_ENST00000392235.3_3'UTR|FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	410						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCCCAGTGAGGTTTCATCCAC	0.512																																																	0													127.0	125.0	126.0					1																	159785374		2203	4300	6503	SO:0001583	missense	0			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1228G>T	1.37:g.159785374G>T	ENSP00000357086:p.Val410Phe		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V410F	ENST00000368106.3	37	c.1228	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147218	0.21288	.	.	ENSG00000181036	ENST00000368106	T	0.01279	5.06	3.87	-7.74	0.01241	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.17979	0.02	T	0.46925	-0.9156	9	0.46703	T	0.11	.	1.3266	0.02126	0.4029:0.1054:0.2809:0.2108	.	410	Q6DN72	FCRL6_HUMAN	F	410	ENSP00000357086:V410F	ENSP00000357086:V410F	V	+	1	0	FCRL6	158051998	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.057000	0.03486	-2.270000	0.00683	-1.139000	0.01908	GTT	FCRL6	-	NULL	ENSG00000181036		0.512	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0.00	40	0	G	NM_001004310		159785374	+1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T
FCRL6	343413	genome.wustl.edu	37	1	159785374	159785374	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:159785374G>T	ENST00000368106.3	+	10	1229	c.1228G>T	c.(1228-1230)Gtt>Ttt	p.V410F	FCRL6_ENST00000392235.3_3'UTR|FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	410						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCCCAGTGAGGTTTCATCCAC	0.512																																																	0													127.0	125.0	126.0					1																	159785374		2203	4300	6503	SO:0001583	missense	0			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1228G>T	1.37:g.159785374G>T	ENSP00000357086:p.Val410Phe		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V410F	ENST00000368106.3	37	c.1228	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147218	0.21288	.	.	ENSG00000181036	ENST00000368106	T	0.01279	5.06	3.87	-7.74	0.01241	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.17979	0.02	T	0.46925	-0.9156	9	0.46703	T	0.11	.	1.3266	0.02126	0.4029:0.1054:0.2809:0.2108	.	410	Q6DN72	FCRL6_HUMAN	F	410	ENSP00000357086:V410F	ENSP00000357086:V410F	V	+	1	0	FCRL6	158051998	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.057000	0.03486	-2.270000	0.00683	-1.139000	0.01908	GTT	FCRL6	-	NULL	ENSG00000181036		0.512	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0.00	65	0	G	NM_001004310		159785374	+1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T
FDXACB1	91893	genome.wustl.edu	37	11	111747584	111747584	+	Missense_Mutation	SNP	C	C	T	rs367952793		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:111747584C>T	ENST00000260257.4	-	3	528	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_Missense_Mutation_p.V12M|C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.V161M	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	161					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AATGGATACACGTCGCTTAAA	0.512																																																	0								C	MET/VAL	0,3806		0,0,1903	48.0	47.0	47.0		481	4.0	1.0	11		47	1,8233		0,1,4116	no	missense	FDXACB1	NM_138378.2	21	0,1,6019	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	161/625	111747584	1,12039	1903	4117	6020	SO:0001583	missense	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.481G>A	11.37:g.111747584C>T	ENSP00000260257:p.Val161Met		A0PJW7|B4DUU2	Missense_Mutation	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.V161M	ENST00000260257.4	37	c.481	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586796	0.46110	0.0	1.21E-4	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.79352	1.52;-1.26;1.52	5.91	4.0	0.46444	Domain of unknown function DUF2431 (1);	0.059471	0.64402	D	0.000003	D	0.84138	0.5406	M	0.74647	2.275	0.54753	D	0.999982	D	0.71674	0.998	P	0.61275	0.886	D	0.85291	0.1067	10	0.87932	D	0	.	9.3921	0.38378	0.0:0.7537:0.1203:0.126	.	161	Q9BRP7	FDXA1_HUMAN	M	161;161;12;72	ENSP00000260257:V161M;ENSP00000441304:V12M;ENSP00000435572:V72M	ENSP00000387627:V161M	V	-	1	0	FDXACB1;ALG9	111252794	0.841000	0.29509	0.981000	0.43875	0.506000	0.33950	1.559000	0.36320	1.473000	0.48159	0.655000	0.94253	GTG	FDXACB1	-	pfam_DUF2431	ENSG00000255561		0.512	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1		0.00	58	0	C	NM_138378		111747584	-1			no_errors	ENST00000260257	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.917	T
FGF18	8817	genome.wustl.edu	37	5	170883662	170883662	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:170883662G>A	ENST00000274625.5	+	5	1021	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	159					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCGGCCGCGGAAGGGCC	0.592																																																	0													69.0	79.0	76.0					5																	170883662		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.477G>A	5.37:g.170883662G>A			D3DQL7|Q6UWF1	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.P159	ENST00000274625.5	37	c.477	CCDS4378.1	5																																																																																			FGF18	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000156427		0.592	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	-	0.00	45	0	G	NM_033649, NM_003862		170883662	+1	tier1	-	no_errors	ENST00000274625	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.041	A
FIBCD1	84929	genome.wustl.edu	37	9	133787269	133787270	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:133787269_133787270insA	ENST00000372338.4	-	5	1097_1098	c.855_856insT	c.(853-858)tttcagfs	p.Q286fs	FIBCD1_ENST00000448616.1_Frame_Shift_Ins_p.Q286fs|FIBCD1_ENST00000372337.2_Frame_Shift_Ins_p.Q128fs|FIBCD1_ENST00000253018.4_Frame_Shift_Ins_p.Q128fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	286	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCCGGCGCTGAAACACCTGCA	0.673																																																	0																																										SO:0001589	frameshift_variant	0			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.856dupT	9.37:g.133787272_133787272dupA	ENSP00000361413:p.Gln286fs		A3KFK0|Q6UXK6|Q96SJ7	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q285fs	ENST00000372338.4	37	c.856_855	CCDS6937.1	9																																																																																			FIBCD1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000130720		0.673	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2		0.00	153	0	-	NM_032843		133787270	-1	tier1		no_errors	ENST00000372338	ensembl	human	known	74_37	frame_shift_ins	12.15	94	13	INS	1.000:0.704	A
FNBP4	23360	genome.wustl.edu	37	11	47744591	47744591	+	Silent	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463																																																	1	Substitution - coding silent(1)	endometrium(1)											15.0	15.0	15.0					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742T>A	11.37:g.47744591A>T			Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P914	ENST00000263773.5	37	c.2742	CCDS41644.1	11																																																																																			FNBP4	-	NULL	ENSG00000109920		0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3		0.00	54	0	A			47744591	-1			no_errors	ENST00000263773	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.174	T
FOXA1	3169	genome.wustl.edu	37	14	38064348	38064350	+	5'Flank	DEL	GCG	GCG	-	rs546145599	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:38064348_38064350delGCG	ENST00000250448.2	-	0	0				FOXA1_ENST00000545425.2_5'Flank|FOXA1_ENST00000540786.1_Intron	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1						anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cgcggcgtgcgcggcggcggcgg	0.837														3732	0.745208	0.8707	0.7032	5008	,	,		2587	0.8056		0.6392	False		,,,				2504	0.6524																0																																										SO:0001631	upstream_gene_variant	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253		14.37:g.38064357_38064359delGCG	Exception_encountered		B2R9H6|B7ZAP5|Q9H2A0	RNA	DEL	-	NULL	ENST00000250448.2	37	NULL	CCDS9665.1	14																																																																																			FOXA1	-	-	ENSG00000129514		0.837	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1		0.00	9	0	GCG			38064350	-1	tier1		no_errors	ENST00000557418	ensembl	human	known	74_37	rna	58.33	5	7	DEL	0.998:0.994:0.997	-
FOXO1	2308	genome.wustl.edu	37	13	41134546	41134546	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:41134546C>T	ENST00000379561.5	-	2	1466	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	361	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CTCAGACAGACTGGGTAAAGT	0.458																																																	0													174.0	164.0	167.0					13																	41134546		2203	4300	6503	SO:0001583	missense	0				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1082G>A	13.37:g.41134546C>T	ENSP00000368880:p.Ser361Asn		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S361N	ENST00000379561.5	37	c.1082	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342558	0.81911	.	.	ENSG00000150907	ENST00000379561	D	0.94092	-3.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	D	0.94858	0.8019	10	0.26408	T	0.33	-8.5152	18.0252	0.89266	0.0:1.0:0.0:0.0	.	335;361	F8TAD1;Q12778	.;FOXO1_HUMAN	N	361	ENSP00000368880:S361N	ENSP00000368880:S361N	S	-	2	0	FOXO1	40032546	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	AGT	FOXO1	-	NULL	ENSG00000150907		0.458	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	-	0.00	74	0	C	NM_002015		41134546	-1	tier1	-	no_errors	ENST00000379561	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T
FOXO1	2308	genome.wustl.edu	37	13	41134546	41134546	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:41134546C>T	ENST00000379561.5	-	2	1466	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	361	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CTCAGACAGACTGGGTAAAGT	0.458																																																	0													174.0	164.0	167.0					13																	41134546		2203	4300	6503	SO:0001583	missense	0				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1082G>A	13.37:g.41134546C>T	ENSP00000368880:p.Ser361Asn		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S361N	ENST00000379561.5	37	c.1082	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342558	0.81911	.	.	ENSG00000150907	ENST00000379561	D	0.94092	-3.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	D	0.94858	0.8019	10	0.26408	T	0.33	-8.5152	18.0252	0.89266	0.0:1.0:0.0:0.0	.	335;361	F8TAD1;Q12778	.;FOXO1_HUMAN	N	361	ENSP00000368880:S361N	ENSP00000368880:S361N	S	-	2	0	FOXO1	40032546	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	AGT	FOXO1	-	NULL	ENSG00000150907		0.458	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	-	0.00	80	0	C	NM_002015		41134546	-1	tier1	-	no_errors	ENST00000379561	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T
FOXP1	27086	genome.wustl.edu	37	3	71008341	71008342	+	3'UTR	INS	-	-	T	rs543490335|rs398062446|rs112773801|rs202147567	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:71008341_71008342insT	ENST00000318789.4	-	0	2615_2616				FOXP1_ENST00000475937.1_3'UTR|FOXP1_ENST00000491238.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTTTGACGTGTTTTTTTTTTT	0.411			T	PAX5	ALL								|||unknown(HR)	1601	0.319688	0.4236	0.1859	5008	,	,		19556	0.4514		0.1342	False		,,,				2504	0.3292							Dom	yes		3	3p14.1	27086	forkhead box P1		L	0																																										SO:0001624	3_prime_UTR_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.*57->A	3.37:g.71008352_71008352dupT			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	RNA	INS	-	NULL	ENST00000318789.4	37	NULL	CCDS2914.1	3																																																																																			FOXP1	-	-	ENSG00000114861		0.411	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	41	0	-	NM_032682		71008342	-1	tier1		no_errors	ENST00000460805	ensembl	human	known	74_37	rna	22.45	38	11	INS	0.616:0.439	T
FRA10AC1	118924	genome.wustl.edu	37	10	95443844	95443844	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95443844C>T	ENST00000359204.4	-	10	834	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E213K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E213K|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E213K	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	213	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ATGGAACATTCTTGGCATAAC	0.308																																																	0													133.0	151.0	145.0					10																	95443844		2203	4300	6503	SO:0001583	missense	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.637G>A	10.37:g.95443844C>T	ENSP00000360488:p.Glu213Lys		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E213K	ENST00000359204.4	37	c.637	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407601	0.62399	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.22539	1.95;1.98;1.95;1.97	4.92	4.92	0.64577	.	0.046901	0.85682	D	0.000000	T	0.20495	0.0493	L	0.31294	0.92	0.58432	D	0.999999	B	0.18461	0.028	B	0.27380	0.079	T	0.03875	-1.0996	10	0.38643	T	0.18	-6.7724	18.4728	0.90781	0.0:1.0:0.0:0.0	.	213	Q70Z53	F10C1_HUMAN	K	213	ENSP00000360488:E213K;ENSP00000438405:E213K;ENSP00000360484:E213K;ENSP00000377660:E213K	ENSP00000360488:E213K	E	-	1	0	FRA10AC1	95433834	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.866000	0.63005	2.426000	0.82243	0.650000	0.86243	GAA	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1	ENSG00000148690		0.308	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	-	0.00	41	0	C	NM_145246		95443844	-1	tier1	-	no_errors	ENST00000359204	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T
FRA10AC1	118924	genome.wustl.edu	37	10	95443844	95443844	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95443844C>T	ENST00000359204.4	-	10	834	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E213K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E213K|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E213K	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	213	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ATGGAACATTCTTGGCATAAC	0.308																																																	0													133.0	151.0	145.0					10																	95443844		2203	4300	6503	SO:0001583	missense	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.637G>A	10.37:g.95443844C>T	ENSP00000360488:p.Glu213Lys		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E213K	ENST00000359204.4	37	c.637	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407601	0.62399	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.22539	1.95;1.98;1.95;1.97	4.92	4.92	0.64577	.	0.046901	0.85682	D	0.000000	T	0.20495	0.0493	L	0.31294	0.92	0.58432	D	0.999999	B	0.18461	0.028	B	0.27380	0.079	T	0.03875	-1.0996	10	0.38643	T	0.18	-6.7724	18.4728	0.90781	0.0:1.0:0.0:0.0	.	213	Q70Z53	F10C1_HUMAN	K	213	ENSP00000360488:E213K;ENSP00000438405:E213K;ENSP00000360484:E213K;ENSP00000377660:E213K	ENSP00000360488:E213K	E	-	1	0	FRA10AC1	95433834	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.866000	0.63005	2.426000	0.82243	0.650000	0.86243	GAA	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1	ENSG00000148690		0.308	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	-	0.00	50	0	C	NM_145246		95443844	-1	tier1	-	no_errors	ENST00000359204	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T
FREM1	158326	genome.wustl.edu	37	9	14756394	14756394	+	Silent	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:14756394A>C	ENST00000380880.3	-	29	6168	c.5385T>G	c.(5383-5385)tcT>tcG	p.S1795S	FREM1_ENST00000380894.1_Silent_p.S331S|FREM1_ENST00000380881.4_Silent_p.S1796S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1795S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1795	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAATCAGTTTAGATGGAATCA	0.333																																																	0													58.0	58.0	58.0					9																	14756394		1830	4088	5918	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5385T>G	9.37:g.14756394A>C			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.S1796	ENST00000380880.3	37	c.5388	CCDS47952.1	9																																																																																			FREM1	-	pfam_Calx_beta	ENSG00000164946		0.333	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0.00	105	0	A	NM_144966		14756394	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	silent	20.87	91	24	SNP	0.995	C
FREM1	158326	genome.wustl.edu	37	9	14756394	14756394	+	Silent	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:14756394A>C	ENST00000380880.3	-	29	6168	c.5385T>G	c.(5383-5385)tcT>tcG	p.S1795S	FREM1_ENST00000380894.1_Silent_p.S331S|FREM1_ENST00000380881.4_Silent_p.S1796S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1795S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1795	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAATCAGTTTAGATGGAATCA	0.333																																																	0													58.0	58.0	58.0					9																	14756394		1830	4088	5918	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5385T>G	9.37:g.14756394A>C			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.S1796	ENST00000380880.3	37	c.5388	CCDS47952.1	9																																																																																			FREM1	-	pfam_Calx_beta	ENSG00000164946		0.333	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0.00	108	0	A	NM_144966		14756394	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	silent	20.87	91	24	SNP	0.995	C
FREM2	341640	genome.wustl.edu	37	13	39453061	39453061	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:39453061G>C	ENST00000280481.7	+	23	9169	c.8953G>C	c.(8953-8955)Gtg>Ctg	p.V2985L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2985					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATTCTCTTAGTGAATCAGCC	0.438																																																	0													220.0	191.0	201.0					13																	39453061		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8953G>C	13.37:g.39453061G>C	ENSP00000280481:p.Val2985Leu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2985L	ENST00000280481.7	37	c.8953	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059679	0.55325	.	.	ENSG00000150893	ENST00000280481	T	0.62639	0.01	5.84	5.84	0.93424	.	0.062019	0.64402	N	0.000005	T	0.64238	0.2580	M	0.84585	2.705	0.58432	D	0.999999	P	0.42649	0.786	B	0.36244	0.22	T	0.68424	-0.5412	10	0.37606	T	0.19	.	14.307	0.66391	0.0705:0.0:0.9295:0.0	.	2985	Q5SZK8	FREM2_HUMAN	L	2985	ENSP00000280481:V2985L	ENSP00000280481:V2985L	V	+	1	0	FREM2	38351061	1.000000	0.71417	0.996000	0.52242	0.709000	0.40893	5.663000	0.68038	2.764000	0.94973	0.655000	0.94253	GTG	FREM2	-	NULL	ENSG00000150893		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	100	0	G	NM_207361		39453061	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	15.96	79	15	SNP	1.000	C
FREM2	341640	genome.wustl.edu	37	13	39453061	39453061	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:39453061G>C	ENST00000280481.7	+	23	9169	c.8953G>C	c.(8953-8955)Gtg>Ctg	p.V2985L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2985					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATTCTCTTAGTGAATCAGCC	0.438																																																	0													220.0	191.0	201.0					13																	39453061		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8953G>C	13.37:g.39453061G>C	ENSP00000280481:p.Val2985Leu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2985L	ENST00000280481.7	37	c.8953	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059679	0.55325	.	.	ENSG00000150893	ENST00000280481	T	0.62639	0.01	5.84	5.84	0.93424	.	0.062019	0.64402	N	0.000005	T	0.64238	0.2580	M	0.84585	2.705	0.58432	D	0.999999	P	0.42649	0.786	B	0.36244	0.22	T	0.68424	-0.5412	10	0.37606	T	0.19	.	14.307	0.66391	0.0705:0.0:0.9295:0.0	.	2985	Q5SZK8	FREM2_HUMAN	L	2985	ENSP00000280481:V2985L	ENSP00000280481:V2985L	V	+	1	0	FREM2	38351061	1.000000	0.71417	0.996000	0.52242	0.709000	0.40893	5.663000	0.68038	2.764000	0.94973	0.655000	0.94253	GTG	FREM2	-	NULL	ENSG00000150893		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	86	0	G	NM_207361		39453061	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	15.96	79	15	SNP	1.000	C
FRMPD4	9758	genome.wustl.edu	37	X	12734819	12734819	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:12734819C>T	ENST00000380682.1	+	15	2747	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	747					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACACTGATGACGCGGAGGACG	0.567																																																	0													113.0	106.0	109.0					X																	12734819		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2241C>T	X.37:g.12734819C>T			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.D747	ENST00000380682.1	37	c.2241	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.567	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	-	0.00	30	0	C	XM_045712		12734819	+1	tier1	-	no_errors	ENST00000380682	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.831	T
FRMPD4	9758	genome.wustl.edu	37	X	12734819	12734819	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:12734819C>T	ENST00000380682.1	+	15	2747	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	747					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACACTGATGACGCGGAGGACG	0.567																																																	0													113.0	106.0	109.0					X																	12734819		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2241C>T	X.37:g.12734819C>T			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.D747	ENST00000380682.1	37	c.2241	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.567	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	-	0.00	36	0	C	XM_045712		12734819	+1	tier1	-	no_errors	ENST00000380682	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.831	T
FRY	10129	genome.wustl.edu	37	13	32731475	32731475	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:32731475G>A	ENST00000380250.3	+	16	2213	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	573						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTGATAAAGAAGTAGGAAG	0.358																																																	0													115.0	107.0	109.0					13																	32731475		1879	4114	5993	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1717G>A	13.37:g.32731475G>A	ENSP00000369600:p.Glu573Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E573K	ENST00000380250.3	37	c.1717	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.613352	0.96637	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.23348	1.91	5.41	5.41	0.78517	.	0.051274	0.85682	D	0.000000	T	0.46464	0.1394	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.59171	0.853	T	0.39981	-0.9587	10	0.87932	D	0	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	573	Q5TBA9	FRY_HUMAN	K	573;501	ENSP00000369600:E573K	ENSP00000267067:E501K	E	+	1	0	FRY	31629475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.680000	0.91292	0.650000	0.86243	GAA	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.358	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0.00	39	0	G	NM_023037		32731475	+1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
FRY	10129	genome.wustl.edu	37	13	32731475	32731475	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:32731475G>A	ENST00000380250.3	+	16	2213	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	573						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTGATAAAGAAGTAGGAAG	0.358																																																	0													115.0	107.0	109.0					13																	32731475		1879	4114	5993	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1717G>A	13.37:g.32731475G>A	ENSP00000369600:p.Glu573Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E573K	ENST00000380250.3	37	c.1717	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.613352	0.96637	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.23348	1.91	5.41	5.41	0.78517	.	0.051274	0.85682	D	0.000000	T	0.46464	0.1394	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.59171	0.853	T	0.39981	-0.9587	10	0.87932	D	0	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	573	Q5TBA9	FRY_HUMAN	K	573;501	ENSP00000369600:E573K	ENSP00000267067:E501K	E	+	1	0	FRY	31629475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.680000	0.91292	0.650000	0.86243	GAA	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.358	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0.00	46	0	G	NM_023037		32731475	+1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
FUS	2521	genome.wustl.edu	37	16	31193931	31193931	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:31193931G>C	ENST00000254108.7	+	3	241	c.136G>C	c.(136-138)Gac>Cac	p.D46H	FUS_ENST00000568685.1_Missense_Mutation_p.D46H|FUS_ENST00000380244.3_Missense_Mutation_p.D46H|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	46	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D46H(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CCAGTCCACGGACACTTCAGG	0.547			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	1	Substitution - Missense(1)	kidney(1)											103.0	96.0	98.0					16																	31193931		2197	4300	6497	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.136G>C	16.37:g.31193931G>C	ENSP00000254108:p.Asp46His		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.D46H	ENST00000254108.7	37	c.136	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800168	0.70567	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	T	0.80304	-1.36	6.11	6.11	0.99139	.	0.261168	0.36893	N	0.002345	D	0.88396	0.6425	M	0.64997	1.995	0.42822	D	0.993991	D;P;P;P;P	0.71674	0.998;0.612;0.874;0.8;0.8	D;B;P;B;B	0.64595	0.927;0.417;0.621;0.417;0.319	D	0.88461	0.3055	10	0.87932	D	0	-18.9584	19.5024	0.95100	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B4DVJ7;Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;.;FUS_HUMAN;.	H	46	ENSP00000254108:D46H	ENSP00000254108:D46H	D	+	1	0	FUS	31101432	1.000000	0.71417	0.979000	0.43373	0.543000	0.35085	5.495000	0.66912	2.907000	0.99374	0.609000	0.83330	GAC	FUS	-	NULL	ENSG00000089280		0.547	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0.00	70	0	G	NM_004960		31193931	+1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.999	C
FUS	2521	genome.wustl.edu	37	16	31193931	31193931	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:31193931G>C	ENST00000254108.7	+	3	241	c.136G>C	c.(136-138)Gac>Cac	p.D46H	FUS_ENST00000568685.1_Missense_Mutation_p.D46H|FUS_ENST00000380244.3_Missense_Mutation_p.D46H|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	46	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D46H(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CCAGTCCACGGACACTTCAGG	0.547			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	1	Substitution - Missense(1)	kidney(1)											103.0	96.0	98.0					16																	31193931		2197	4300	6497	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.136G>C	16.37:g.31193931G>C	ENSP00000254108:p.Asp46His		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.D46H	ENST00000254108.7	37	c.136	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800168	0.70567	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	T	0.80304	-1.36	6.11	6.11	0.99139	.	0.261168	0.36893	N	0.002345	D	0.88396	0.6425	M	0.64997	1.995	0.42822	D	0.993991	D;P;P;P;P	0.71674	0.998;0.612;0.874;0.8;0.8	D;B;P;B;B	0.64595	0.927;0.417;0.621;0.417;0.319	D	0.88461	0.3055	10	0.87932	D	0	-18.9584	19.5024	0.95100	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B4DVJ7;Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;.;FUS_HUMAN;.	H	46	ENSP00000254108:D46H	ENSP00000254108:D46H	D	+	1	0	FUS	31101432	1.000000	0.71417	0.979000	0.43373	0.543000	0.35085	5.495000	0.66912	2.907000	0.99374	0.609000	0.83330	GAC	FUS	-	NULL	ENSG00000089280		0.547	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0.00	79	0	G	NM_004960		31193931	+1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.999	C
FZD1	8321	genome.wustl.edu	37	7	90894459	90894460	+	In_Frame_Ins	INS	-	-	CCG	rs71292991|rs139480179	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:90894459_90894460insCCG	ENST00000287934.2	+	1	677_678	c.264_265insCCG	c.(265-267)ccg>CCGccg	p.89_89P>PP		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	89	Poly-Pro.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q88_P89insP(2)|p.Q88_P89insA(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			cggggcAGCAACCGCCGCCGCC	0.743														1874	0.374201	0.4047	0.4625	5008	,	,		10872	0.2986		0.4294	False		,,,				2504	0.2914																3	Insertion - In frame(3)	breast(2)|liver(1)								1606,5,2563		359,2,886,0,3,837						0.6	1.0		dbSNP_134	11	3182,3,4959		703,0,1776,1,1,1591	no	codingComplex	FZD1	NM_003505.1		1062,2,2662,1,4,2428	A1A1,A1A2,A1R,A2A2,A2R,RR		39.1085,38.5961,38.9349				4788,8,7522				SO:0001652	inframe_insertion	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.274_276dupCCG	7.37:g.90894466_90894468dupCCG	ENSP00000287934:p.Pro93dup		A4D1E8|O94815|Q549T8	In_Frame_Ins	INS	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.92in_frame_insP	ENST00000287934.2	37	c.264_265	CCDS5620.1	7																																																																																			FZD1	-	NULL	ENSG00000157240		0.743	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2		0.00	14	0	-	NM_003505		90894460	+1	tier1		no_errors	ENST00000287934	ensembl	human	known	74_37	in_frame_ins	27.78	13	5	INS	0.006:0.934	CCG
GAPDH	2597	genome.wustl.edu	37	12	6645892	6645892	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:6645892G>A	ENST00000229239.5	+	4	838	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	GAPDH_ENST00000396859.1_Missense_Mutation_p.G58S|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.G58S|GAPDH_ENST00000396858.1_Missense_Mutation_p.G16S|GAPDH_ENST00000396856.1_5'UTR	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	58	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CAAATTCCATGGCACCGTCAA	0.512																																																	0													118.0	110.0	113.0					12																	6645892		2203	4300	6503	SO:0001583	missense	0			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.172G>A	12.37:g.6645892G>A	ENSP00000229239:p.Gly58Ser		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.G58S	ENST00000229239.5	37	c.172	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619816	0.87460	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.36	5.36	0.76844	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.062472	0.64402	D	0.000004	T	0.56673	0.2001	M	0.82630	2.6	0.80722	D	1	B	0.27951	0.195	B	0.28784	0.094	T	0.61197	-0.7111	10	0.66056	D	0.02	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	58	P04406	G3P_HUMAN	S	58;58;58;58;16	ENSP00000229239:G58S;ENSP00000380070:G58S;ENSP00000380068:G58S;ENSP00000380067:G16S	ENSP00000229239:G58S	G	+	1	0	GAPDH	6516153	1.000000	0.71417	0.940000	0.37924	0.740000	0.42216	9.697000	0.98697	2.509000	0.84616	0.561000	0.74099	GGC	GAPDH	-	pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000111640		0.512	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1		0.00	23	0	G	NM_002046		6645892	+1			no_errors	ENST00000229239	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A
GBE1	2632	genome.wustl.edu	37	3	81720028	81720028	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:81720028C>T	ENST00000429644.2	-	3	1033	c.390G>A	c.(388-390)caG>caA	p.Q130Q	GBE1_ENST00000489715.1_Silent_p.Q89Q|GBE1_ENST00000477426.1_5'UTR	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	130					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGATTTATTCTGCTTTGGTG	0.348									Glycogen Storage Disease, type IV																																								0													92.0	88.0	89.0					3																	81720028		1816	4101	5917	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.390G>A	3.37:g.81720028C>T			B3KWV3|Q96EN0	Silent	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.Q130	ENST00000429644.2	37	c.390	CCDS54612.1	3																																																																																			GBE1	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set	ENSG00000114480		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0.00	57	0	C			81720028	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	silent	12.26	93	13	SNP	0.001	T
GBE1	2632	genome.wustl.edu	37	3	81720028	81720028	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:81720028C>T	ENST00000429644.2	-	3	1033	c.390G>A	c.(388-390)caG>caA	p.Q130Q	GBE1_ENST00000489715.1_Silent_p.Q89Q|GBE1_ENST00000477426.1_5'UTR	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	130					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGATTTATTCTGCTTTGGTG	0.348									Glycogen Storage Disease, type IV																																								0													92.0	88.0	89.0					3																	81720028		1816	4101	5917	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.390G>A	3.37:g.81720028C>T			B3KWV3|Q96EN0	Silent	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.Q130	ENST00000429644.2	37	c.390	CCDS54612.1	3																																																																																			GBE1	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set	ENSG00000114480		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0.00	77	0	C			81720028	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	silent	12.26	93	13	SNP	0.001	T
GIGYF2	26058	genome.wustl.edu	37	2	233655756	233655756	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233655756G>T	ENST00000409547.1	+	13	1280	c.969G>T	c.(967-969)atG>atT	p.M323I	GIGYF2_ENST00000373566.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M345I|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M154I|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M323I|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M317I	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	323					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGGAGATGGACTTCCGGC	0.448																																																	0													67.0	71.0	69.0					2																	233655756		2203	4300	6503	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.969G>T	2.37:g.233655756G>T	ENSP00000386537:p.Met323Ile		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	NULL	p.G48*	ENST00000409547.1	37	c.142	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940190	0.73557	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.82167	-0.54;-0.54;-0.54;-0.54;-0.68;-0.55;-0.54;-0.69;-0.38;-1.58;-1.56	5.37	5.37	0.77165	.	0.155295	0.64402	D	0.000016	T	0.78175	0.4242	L	0.34521	1.04	0.54753	D	0.999989	B;B;B;B	0.27416	0.178;0.024;0.015;0.024	B;B;B;B	0.33846	0.171;0.024;0.004;0.024	T	0.72491	-0.4277	10	0.14656	T	0.56	-15.1549	19.1179	0.93350	0.0:0.0:1.0:0.0	.	154;345;323;317	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	I	345;266;323;345;323;323;266;317;345;317;154;75;105	ENSP00000362667:M345I;ENSP00000362664:M323I;ENSP00000386765:M345I;ENSP00000386537:M323I;ENSP00000404195:M266I;ENSP00000387070:M317I;ENSP00000387170:M345I;ENSP00000410297:M317I;ENSP00000411505:M154I;ENSP00000398055:M75I;ENSP00000387276:M105I	ENSP00000362664:M323I	M	+	3	0	GIGYF2	233364000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.539000	0.60657	2.513000	0.84729	0.655000	0.94253	ATG	GIGYF2	-	NULL	ENSG00000204120		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0.00	49	0	G	NM_001103146		233655756	+1	tier1	-	no_errors	ENST00000458528	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T
GIGYF2	26058	genome.wustl.edu	37	2	233655756	233655756	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:233655756G>T	ENST00000409547.1	+	13	1280	c.969G>T	c.(967-969)atG>atT	p.M323I	GIGYF2_ENST00000373566.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M345I|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M154I|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M323I|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M345I|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M317I	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	323					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGGAGATGGACTTCCGGC	0.448																																																	0													67.0	71.0	69.0					2																	233655756		2203	4300	6503	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.969G>T	2.37:g.233655756G>T	ENSP00000386537:p.Met323Ile		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	NULL	p.G48*	ENST00000409547.1	37	c.142	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940190	0.73557	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.82167	-0.54;-0.54;-0.54;-0.54;-0.68;-0.55;-0.54;-0.69;-0.38;-1.58;-1.56	5.37	5.37	0.77165	.	0.155295	0.64402	D	0.000016	T	0.78175	0.4242	L	0.34521	1.04	0.54753	D	0.999989	B;B;B;B	0.27416	0.178;0.024;0.015;0.024	B;B;B;B	0.33846	0.171;0.024;0.004;0.024	T	0.72491	-0.4277	10	0.14656	T	0.56	-15.1549	19.1179	0.93350	0.0:0.0:1.0:0.0	.	154;345;323;317	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	I	345;266;323;345;323;323;266;317;345;317;154;75;105	ENSP00000362667:M345I;ENSP00000362664:M323I;ENSP00000386765:M345I;ENSP00000386537:M323I;ENSP00000404195:M266I;ENSP00000387070:M317I;ENSP00000387170:M345I;ENSP00000410297:M317I;ENSP00000411505:M154I;ENSP00000398055:M75I;ENSP00000387276:M105I	ENSP00000362664:M323I	M	+	3	0	GIGYF2	233364000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.539000	0.60657	2.513000	0.84729	0.655000	0.94253	ATG	GIGYF2	-	NULL	ENSG00000204120		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0.00	54	0	G	NM_001103146		233655756	+1	tier1	-	no_errors	ENST00000458528	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T
GJB1	2705	genome.wustl.edu	37	X	70443602	70443602	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:70443602G>T	ENST00000374022.3	+	2	140	c.45G>T	c.(43-45)cgG>cgT	p.R15R	GJB1_ENST00000374029.1_Silent_p.R15R|GJB1_ENST00000361726.6_Silent_p.R15R	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	15			R -> Q (in CMTX1). {ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9361298}.|R -> W (in CMTX1; moderate). {ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9452099}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCGTGAACCGGCATTCTACTG	0.517																																																	0													123.0	94.0	104.0					X																	70443602		2203	4300	6503	SO:0001819	synonymous_variant	0			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.45G>T	X.37:g.70443602G>T			B2R8R2|D3DVV2|Q5U0S4	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.R15	ENST00000374022.3	37	c.45	CCDS14408.1	X																																																																																			GJB1	-	pfam_Connexin_N	ENSG00000169562		0.517	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1		0.00	77	0	G	NM_000166		70443602	+1			no_errors	ENST00000361726	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121742273	121742273	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:121742273T>C	ENST00000452319.1	+	12	1970	c.1910T>C	c.(1909-1911)gTg>gCg	p.V637A	GLI2_ENST00000361492.4_Missense_Mutation_p.V637A|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.V309A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCAGGCCGTGGAGGACTGC	0.682																																																	0													26.0	27.0	27.0					2																	121742273		2201	4297	6498	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1910T>C	2.37:g.121742273T>C	ENSP00000390436:p.Val637Ala			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V637A	ENST00000452319.1	37	c.1910	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	T	7.240	0.601020	0.13939	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.13778	2.56;2.56;2.64	4.7	2.23	0.28157	.	0.470065	0.23995	N	0.042534	T	0.09686	0.0238	L	0.52011	1.625	0.35215	D	0.775539	B;B;B;B;B	0.12013	0.002;0.0;0.005;0.0;0.001	B;B;B;B;B	0.14578	0.003;0.001;0.011;0.003;0.004	T	0.25745	-1.0123	10	0.08381	T	0.77	.	4.8875	0.13710	0.0:0.2382:0.1485:0.6133	.	637;620;292;292;309	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	A	637;637;309	ENSP00000390436:V637A;ENSP00000354586:V637A;ENSP00000312694:V309A	ENSP00000312694:V309A	V	+	2	0	GLI2	121458743	0.976000	0.34144	0.900000	0.35374	0.936000	0.57629	0.959000	0.29240	0.282000	0.22254	0.459000	0.35465	GTG	GLI2	-	NULL	ENSG00000074047		0.682	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	-	0.00	65	0	T	NM_005270		121742273	+1	tier1	-	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.945	C
GLI2	2736	genome.wustl.edu	37	2	121742273	121742273	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:121742273T>C	ENST00000452319.1	+	12	1970	c.1910T>C	c.(1909-1911)gTg>gCg	p.V637A	GLI2_ENST00000361492.4_Missense_Mutation_p.V637A|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.V309A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCAGGCCGTGGAGGACTGC	0.682																																																	0													26.0	27.0	27.0					2																	121742273		2201	4297	6498	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1910T>C	2.37:g.121742273T>C	ENSP00000390436:p.Val637Ala			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V637A	ENST00000452319.1	37	c.1910	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	T	7.240	0.601020	0.13939	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.13778	2.56;2.56;2.64	4.7	2.23	0.28157	.	0.470065	0.23995	N	0.042534	T	0.09686	0.0238	L	0.52011	1.625	0.35215	D	0.775539	B;B;B;B;B	0.12013	0.002;0.0;0.005;0.0;0.001	B;B;B;B;B	0.14578	0.003;0.001;0.011;0.003;0.004	T	0.25745	-1.0123	10	0.08381	T	0.77	.	4.8875	0.13710	0.0:0.2382:0.1485:0.6133	.	637;620;292;292;309	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	A	637;637;309	ENSP00000390436:V637A;ENSP00000354586:V637A;ENSP00000312694:V309A	ENSP00000312694:V309A	V	+	2	0	GLI2	121458743	0.976000	0.34144	0.900000	0.35374	0.936000	0.57629	0.959000	0.29240	0.282000	0.22254	0.459000	0.35465	GTG	GLI2	-	NULL	ENSG00000074047		0.682	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	-	0.00	80	0	T	NM_005270		121742273	+1	tier1	-	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.945	C
GLIS1	148979	genome.wustl.edu	37	1	53980299	53980299	+	Splice_Site	SNP	C	C	T	rs538030086		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:53980299C>T	ENST00000312233.2	-	7	1923	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGTACATACCCATCCCGGGTG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17673	0.0		0.0	False		,,,				2504	0.001																0													77.0	78.0	78.0					1																	53980299		2203	4300	6503	SO:0001630	splice_region_variant	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1358+1G>A	1.37:g.53980299C>T				Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G453R	ENST00000312233.2	37	c.1357	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613010	0.46631	.	.	ENSG00000174332	ENST00000312233	T	0.10668	2.85	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000037	T	0.11024	0.0269	L	0.34521	1.04	0.49299	D	0.999773	P	0.47350	0.894	P	0.47044	0.535	T	0.15752	-1.0426	10	0.15499	T	0.54	.	11.4508	0.50151	0.0:0.9132:0.0:0.0868	.	453	Q8NBF1	GLIS1_HUMAN	R	453	ENSP00000309653:G453R	ENSP00000309653:G453R	G	-	1	0	GLIS1	53752887	0.976000	0.34144	1.000000	0.80357	0.693000	0.40251	2.209000	0.42806	2.688000	0.91661	0.563000	0.77884	GGG	GLIS1	-	NULL	ENSG00000174332		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0.00	81	0	C	NM_147193	Missense_Mutation	53980299	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.998	T
GLOD5	392465	genome.wustl.edu	37	X	48629452	48629452	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:48629452G>A	ENST00000303227.6	+	3	352	c.311G>A	c.(310-312)tGt>tAt	p.C104Y	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	104										endometrium(1)|lung(2)	3						CTGGACATATGTCTGATCACA	0.483																																																	0													61.0	56.0	57.0					X																	48629452		1879	4106	5985	SO:0001583	missense	0				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.311G>A	X.37:g.48629452G>A	ENSP00000302552:p.Cys104Tyr			Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom	p.C104Y	ENST00000303227.6	37	c.311	CCDS55410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.029701|4.029701	0.75504|0.75504	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87402|0.87402	0.6168|0.6168	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91576|0.91576	0.5275|0.5275	9|5	0.87932|.	D|.	0|.	.|.	14.4452|14.4452	0.67345|0.67345	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92|.	A6NK44|.	GLOD5_HUMAN|.	Y|I	104|71	.|.	ENSP00000302552:C104Y|.	C|V	+|+	2|1	0|0	GLOD5|GLOD5	48514396|48514396	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.929000|0.929000	0.56500|0.56500	7.893000|7.893000	0.87330|0.87330	2.077000|2.077000	0.62373|0.62373	0.380000|0.380000	0.24917|0.24917	TGT|GTC	GLOD5	-	pfam_Glyas_Fos-R_dOase_dom	ENSG00000171433		0.483	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		-	0.00	41	0	G	NM_001080489		48629452	+1	tier1	-	no_errors	ENST00000303227	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A
GLOD5	392465	genome.wustl.edu	37	X	48629452	48629452	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:48629452G>A	ENST00000303227.6	+	3	352	c.311G>A	c.(310-312)tGt>tAt	p.C104Y	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	104										endometrium(1)|lung(2)	3						CTGGACATATGTCTGATCACA	0.483																																																	0													61.0	56.0	57.0					X																	48629452		1879	4106	5985	SO:0001583	missense	0				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.311G>A	X.37:g.48629452G>A	ENSP00000302552:p.Cys104Tyr			Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom	p.C104Y	ENST00000303227.6	37	c.311	CCDS55410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.029701|4.029701	0.75504|0.75504	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87402|0.87402	0.6168|0.6168	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91576|0.91576	0.5275|0.5275	9|5	0.87932|.	D|.	0|.	.|.	14.4452|14.4452	0.67345|0.67345	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92|.	A6NK44|.	GLOD5_HUMAN|.	Y|I	104|71	.|.	ENSP00000302552:C104Y|.	C|V	+|+	2|1	0|0	GLOD5|GLOD5	48514396|48514396	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.929000|0.929000	0.56500|0.56500	7.893000|7.893000	0.87330|0.87330	2.077000|2.077000	0.62373|0.62373	0.380000|0.380000	0.24917|0.24917	TGT|GTC	GLOD5	-	pfam_Glyas_Fos-R_dOase_dom	ENSG00000171433		0.483	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		-	0.00	48	0	G	NM_001080489		48629452	+1	tier1	-	no_errors	ENST00000303227	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A
GNA12	2768	genome.wustl.edu	37	7	2801997	2801998	+	Intron	INS	-	-	G	rs33991430|rs398003420	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:2801997_2801998insG	ENST00000275364.3	-	3	688				GNA12_ENST00000407653.1_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000396960.3_Intron|GNA12_ENST00000407904.3_Intron|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		caccgaatccagacacggtatg	0.584													G|G|GG|insertion	1063	0.21226	0.1528	0.2608	5008	,	,		18452	0.2222		0.2883	False		,,,				2504	0.1697																0																																										SO:0001627	intron_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.526-28862->C	7.37:g.2801998_2801998dupG			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	RNA	INS	-	NULL	ENST00000275364.3	37	NULL	CCDS5335.1	7																																																																																			GNA12	-	-	ENSG00000146535		0.584	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1		0.00	13	0	-	NM_007353		2801998	-1	tier1		no_errors	ENST00000496740	ensembl	human	known	74_37	rna	58.33	5	7	INS	0.002:0.001	G
GNL2	29889	genome.wustl.edu	37	1	38032583	38032583	+	Missense_Mutation	SNP	C	C	T	rs372906788		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:38032583C>T	ENST00000373062.3	-	16	2167	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	690					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTTTTCGGCCGTTGCTGTCG	0.413																																																	0								C	GLN/ARG	0,4406		0,0,2203	154.0	139.0	145.0		2069	-2.2	0.0	1		145	2,8598	2.2+/-6.3	0,2,4298	no	missense	GNL2	NM_013285.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	690/732	38032583	2,13004	2203	4300	6503	SO:0001583	missense	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2069G>A	1.37:g.38032583C>T	ENSP00000362153:p.Arg690Gln		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.R690Q	ENST00000373062.3	37	c.2069	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062748	0.19987	0.0	2.33E-4	ENSG00000134697	ENST00000373062	T	0.23552	1.9	5.23	-2.18	0.07037	.	0.405345	0.28161	N	0.016361	T	0.10766	0.0263	N	0.12746	0.255	0.09310	N	0.999995	B	0.11235	0.004	B	0.08055	0.003	T	0.18713	-1.0328	10	0.33141	T	0.24	-2.7223	7.2398	0.26090	0.0:0.4354:0.1252:0.4395	.	690	Q13823	NOG2_HUMAN	Q	690	ENSP00000362153:R690Q	ENSP00000362153:R690Q	R	-	2	0	GNL2	37805170	0.806000	0.28996	0.003000	0.11579	0.239000	0.25481	1.186000	0.32078	-0.195000	0.10382	-0.367000	0.07326	CGG	GNL2	-	NULL	ENSG00000134697		0.413	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	-	0.00	100	0	C	NM_013285		38032583	-1	tier1	-	no_errors	ENST00000373062	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.013	T
GNL2	29889	genome.wustl.edu	37	1	38032583	38032583	+	Missense_Mutation	SNP	C	C	T	rs372906788		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:38032583C>T	ENST00000373062.3	-	16	2167	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	690					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTTTTCGGCCGTTGCTGTCG	0.413																																																	0								C	GLN/ARG	0,4406		0,0,2203	154.0	139.0	145.0		2069	-2.2	0.0	1		145	2,8598	2.2+/-6.3	0,2,4298	no	missense	GNL2	NM_013285.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	690/732	38032583	2,13004	2203	4300	6503	SO:0001583	missense	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2069G>A	1.37:g.38032583C>T	ENSP00000362153:p.Arg690Gln		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.R690Q	ENST00000373062.3	37	c.2069	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062748	0.19987	0.0	2.33E-4	ENSG00000134697	ENST00000373062	T	0.23552	1.9	5.23	-2.18	0.07037	.	0.405345	0.28161	N	0.016361	T	0.10766	0.0263	N	0.12746	0.255	0.09310	N	0.999995	B	0.11235	0.004	B	0.08055	0.003	T	0.18713	-1.0328	10	0.33141	T	0.24	-2.7223	7.2398	0.26090	0.0:0.4354:0.1252:0.4395	.	690	Q13823	NOG2_HUMAN	Q	690	ENSP00000362153:R690Q	ENSP00000362153:R690Q	R	-	2	0	GNL2	37805170	0.806000	0.28996	0.003000	0.11579	0.239000	0.25481	1.186000	0.32078	-0.195000	0.10382	-0.367000	0.07326	CGG	GNL2	-	NULL	ENSG00000134697		0.413	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	-	0.00	98	0	C	NM_013285		38032583	-1	tier1	-	no_errors	ENST00000373062	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.013	T
GOLGA6L6	727832	genome.wustl.edu	37	15	20740173	20740173	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:20740173A>G	ENST00000427390.2	-	8	1667	c.1577T>C	c.(1576-1578)aTa>aCa	p.I526T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	526	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctgctcccgtatcttctcctc	0.547																																																	0													121.0	122.0	122.0					15																	20740173		674	1564	2238	SO:0001583	missense	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1577T>C	15.37:g.20740173A>G	ENSP00000398615:p.Ile526Thr		D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.I526T	ENST00000427390.2	37	c.1577	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	A	0.407	-0.915302	0.02415	.	.	ENSG00000215405	ENST00000427390	T	0.08458	3.09	.	.	.	.	.	.	.	.	T	0.04634	0.0126	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47381	-0.9122	7	0.11485	T	0.65	.	.	.	.	.	526	A8MZA4	GG6L6_HUMAN	T	526	ENSP00000398615:I526T	ENSP00000398615:I526T	I	-	2	0	GOLGA6L6	19000187	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	0.485000	0.22324	0.138000	0.18790	0.136000	0.15936	ATA	GOLGA6L6	-	NULL	ENSG00000215405		0.547	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	-	0.00	302	0	A	NM_001145004		20740173	-1	tier1	-	no_errors	ENST00000427390	ensembl	human	known	74_37	missense	9.82	247	27	SNP	0.464	G
GOLGA6L6	727832	genome.wustl.edu	37	15	20740173	20740173	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:20740173A>G	ENST00000427390.2	-	8	1667	c.1577T>C	c.(1576-1578)aTa>aCa	p.I526T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	526	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctgctcccgtatcttctcctc	0.547																																																	0													121.0	122.0	122.0					15																	20740173		674	1564	2238	SO:0001583	missense	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1577T>C	15.37:g.20740173A>G	ENSP00000398615:p.Ile526Thr		D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.I526T	ENST00000427390.2	37	c.1577	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	A	0.407	-0.915302	0.02415	.	.	ENSG00000215405	ENST00000427390	T	0.08458	3.09	.	.	.	.	.	.	.	.	T	0.04634	0.0126	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47381	-0.9122	7	0.11485	T	0.65	.	.	.	.	.	526	A8MZA4	GG6L6_HUMAN	T	526	ENSP00000398615:I526T	ENSP00000398615:I526T	I	-	2	0	GOLGA6L6	19000187	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	0.485000	0.22324	0.138000	0.18790	0.136000	0.15936	ATA	GOLGA6L6	-	NULL	ENSG00000215405		0.547	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	-	0.00	334	0	A	NM_001145004		20740173	-1	tier1	-	no_errors	ENST00000427390	ensembl	human	known	74_37	missense	9.82	247	27	SNP	0.464	G
GPR158	57512	genome.wustl.edu	37	10	25889143	25889143	+	3'UTR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:25889143T>G	ENST00000376351.3	+	0	4947				GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAAGGACAACTTATCCGTTGT	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.*940T>G	10.37:g.25889143T>G			Q6QR81|Q9ULT3	RNA	SNP	-	NULL	ENST00000376351.3	37	NULL	CCDS31166.1	10																																																																																			GPR158	-	-	ENSG00000151025		0.343	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	36	0	T	XM_166110		25889143	+1	tier1	-	no_errors	ENST00000490549	ensembl	human	known	74_37	rna	11.76	59	8	SNP	1.000	G
GPR158	57512	genome.wustl.edu	37	10	25889143	25889143	+	3'UTR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:25889143T>G	ENST00000376351.3	+	0	4947				GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAAGGACAACTTATCCGTTGT	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.*940T>G	10.37:g.25889143T>G			Q6QR81|Q9ULT3	RNA	SNP	-	NULL	ENST00000376351.3	37	NULL	CCDS31166.1	10																																																																																			GPR158	-	-	ENSG00000151025		0.343	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	37	0	T	XM_166110		25889143	+1	tier1	-	no_errors	ENST00000490549	ensembl	human	known	74_37	rna	11.76	59	8	SNP	1.000	G
GPR161	23432	genome.wustl.edu	37	1	168065938	168065938	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:168065938G>A	ENST00000367838.1	-	5	1220	c.907C>T	c.(907-909)Ccg>Tcg	p.P303S	GPR161_ENST00000537209.1_Missense_Mutation_p.P323S|GPR161_ENST00000546300.1_Missense_Mutation_p.P189S|GPR161_ENST00000361697.2_Missense_Mutation_p.P303S|GPR161_ENST00000367835.1_Missense_Mutation_p.P303S|GPR161_ENST00000271357.5_Missense_Mutation_p.P303S|GPR161_ENST00000367836.1_Missense_Mutation_p.P171S|GPR161_ENST00000539777.1_Missense_Mutation_p.P225S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	303					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCAGGCTCGGGGAGACGGAG	0.592																																																	0													57.0	61.0	60.0					1																	168065938		2203	4300	6503	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.907C>T	1.37:g.168065938G>A	ENSP00000356812:p.Pro303Ser		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P323S	ENST00000367838.1	37	c.967	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455258	0.43634	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.48	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.099263	0.64402	D	0.000001	T	0.41743	0.1172	L	0.41124	1.26	0.43824	D	0.996390	B;P;B;P;B;B	0.36483	0.079;0.549;0.264;0.555;0.003;0.166	B;B;B;B;B;B	0.32624	0.021;0.149;0.05;0.114;0.004;0.056	T	0.34775	-0.9815	9	0.25106	T	0.35	-30.7297	11.9152	0.52761	0.1046:0.0:0.8954:0.0	.	323;189;225;323;303;303	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	S	303;303;171;303;189;225;323;303	ENSP00000356812:P303S;ENSP00000271357:P303S;ENSP00000356810:P171S;ENSP00000356809:P303S;ENSP00000444348:P189S;ENSP00000437576:P225S;ENSP00000441039:P323S;ENSP00000355194:P303S	ENSP00000271357:P303S	P	-	1	0	GPR161	166332562	1.000000	0.71417	0.920000	0.36463	0.827000	0.46813	7.651000	0.83577	1.193000	0.43086	0.561000	0.74099	CCG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0.00	34	0	G	NM_007369		168065938	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	A
GPR161	23432	genome.wustl.edu	37	1	168065938	168065938	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:168065938G>A	ENST00000367838.1	-	5	1220	c.907C>T	c.(907-909)Ccg>Tcg	p.P303S	GPR161_ENST00000537209.1_Missense_Mutation_p.P323S|GPR161_ENST00000546300.1_Missense_Mutation_p.P189S|GPR161_ENST00000361697.2_Missense_Mutation_p.P303S|GPR161_ENST00000367835.1_Missense_Mutation_p.P303S|GPR161_ENST00000271357.5_Missense_Mutation_p.P303S|GPR161_ENST00000367836.1_Missense_Mutation_p.P171S|GPR161_ENST00000539777.1_Missense_Mutation_p.P225S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	303					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCAGGCTCGGGGAGACGGAG	0.592																																																	0													57.0	61.0	60.0					1																	168065938		2203	4300	6503	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.907C>T	1.37:g.168065938G>A	ENSP00000356812:p.Pro303Ser		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P323S	ENST00000367838.1	37	c.967	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455258	0.43634	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.48	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.099263	0.64402	D	0.000001	T	0.41743	0.1172	L	0.41124	1.26	0.43824	D	0.996390	B;P;B;P;B;B	0.36483	0.079;0.549;0.264;0.555;0.003;0.166	B;B;B;B;B;B	0.32624	0.021;0.149;0.05;0.114;0.004;0.056	T	0.34775	-0.9815	9	0.25106	T	0.35	-30.7297	11.9152	0.52761	0.1046:0.0:0.8954:0.0	.	323;189;225;323;303;303	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	S	303;303;171;303;189;225;323;303	ENSP00000356812:P303S;ENSP00000271357:P303S;ENSP00000356810:P171S;ENSP00000356809:P303S;ENSP00000444348:P189S;ENSP00000437576:P225S;ENSP00000441039:P323S;ENSP00000355194:P303S	ENSP00000271357:P303S	P	-	1	0	GPR161	166332562	1.000000	0.71417	0.920000	0.36463	0.827000	0.46813	7.651000	0.83577	1.193000	0.43086	0.561000	0.74099	CCG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0.00	75	0	G	NM_007369		168065938	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	A
GPR32	2854	genome.wustl.edu	37	19	51274769	51274769	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:51274769G>T	ENST00000270590.4	+	1	1049	c.912G>T	c.(910-912)ttG>ttT	p.L304F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTTTGCCTTGGGCTGTGTCA	0.542																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													84.0	81.0	82.0					19																	51274769		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.912G>T	19.37:g.51274769G>T	ENSP00000270590:p.Leu304Phe		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L304F	ENST00000270590.4	37	c.912	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296502	0.23650	.	.	ENSG00000142511	ENST00000270590	T	0.47528	0.84	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64193	0.2576	M	0.66439	2.03	0.32362	N	0.55709	D	0.89917	1.0	D	0.91635	0.999	T	0.70941	-0.4735	9	0.87932	D	0	.	11.228	0.48895	0.0:0.0:1.0:0.0	.	304	O75388	GPR32_HUMAN	F	304	ENSP00000270590:L304F	ENSP00000270590:L304F	L	+	3	2	GPR32	55966581	1.000000	0.71417	0.569000	0.28460	0.105000	0.19272	1.138000	0.31491	1.356000	0.45884	0.313000	0.20887	TTG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000142511		0.542	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0.00	114	0	G			51274769	+1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.986	T
GPR32	2854	genome.wustl.edu	37	19	51274769	51274769	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:51274769G>T	ENST00000270590.4	+	1	1049	c.912G>T	c.(910-912)ttG>ttT	p.L304F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTTTGCCTTGGGCTGTGTCA	0.542																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													84.0	81.0	82.0					19																	51274769		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.912G>T	19.37:g.51274769G>T	ENSP00000270590:p.Leu304Phe		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L304F	ENST00000270590.4	37	c.912	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296502	0.23650	.	.	ENSG00000142511	ENST00000270590	T	0.47528	0.84	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64193	0.2576	M	0.66439	2.03	0.32362	N	0.55709	D	0.89917	1.0	D	0.91635	0.999	T	0.70941	-0.4735	9	0.87932	D	0	.	11.228	0.48895	0.0:0.0:1.0:0.0	.	304	O75388	GPR32_HUMAN	F	304	ENSP00000270590:L304F	ENSP00000270590:L304F	L	+	3	2	GPR32	55966581	1.000000	0.71417	0.569000	0.28460	0.105000	0.19272	1.138000	0.31491	1.356000	0.45884	0.313000	0.20887	TTG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000142511		0.542	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0.00	129	0	G			51274769	+1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.986	T
GREM2	64388	genome.wustl.edu	37	1	240656362	240656362	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:240656362G>A	ENST00000318160.4	-	2	680	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	138	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGTCCAGGCCGGGGCACTCGA	0.637																																																	0													57.0	61.0	59.0					1																	240656362		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.414C>T	1.37:g.240656362G>A			Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.P138	ENST00000318160.4	37	c.414	CCDS31070.1	1																																																																																			GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.637	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	-	0.00	60	0	G	NM_022469		240656362	-1	tier1	-	no_errors	ENST00000318160	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.829	A
GREM2	64388	genome.wustl.edu	37	1	240656362	240656362	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:240656362G>A	ENST00000318160.4	-	2	680	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	138	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGTCCAGGCCGGGGCACTCGA	0.637																																																	0													57.0	61.0	59.0					1																	240656362		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.414C>T	1.37:g.240656362G>A			Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.P138	ENST00000318160.4	37	c.414	CCDS31070.1	1																																																																																			GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.637	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	-	0.00	83	0	G	NM_022469		240656362	-1	tier1	-	no_errors	ENST00000318160	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.829	A
GRIK1	2897	genome.wustl.edu	37	21	31062161	31062161	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31062161T>A	ENST00000399907.1	-	3	842	c.431A>T	c.(430-432)gAt>gTt	p.D144V	GRIK1_ENST00000327783.4_Missense_Mutation_p.D144V|GRIK1_ENST00000535441.1_Missense_Mutation_p.D144V|GRIK1_ENST00000399909.1_Missense_Mutation_p.D144V|GRIK1_ENST00000389125.3_Missense_Mutation_p.D144V|GRIK1_ENST00000399913.1_Missense_Mutation_p.D144V|GRIK1_ENST00000389124.2_Missense_Mutation_p.D144V|GRIK1_ENST00000399914.1_Missense_Mutation_p.D144V|GRIK1_ENST00000309434.7_Missense_Mutation_p.D144V|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	144					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTAAAACAAATCTTTGTTGTC	0.478																																																	0													204.0	191.0	195.0					21																	31062161		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.431A>T	21.37:g.31062161T>A	ENSP00000382791:p.Asp144Val		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D144V	ENST00000399907.1	37	c.431	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505352	0.85282	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.17	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.410122	0.28736	N	0.014307	D	0.90000	0.6878	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.997;0.997;0.997;0.996	D;D;D;D;D	0.76071	0.987;0.972;0.972;0.972;0.919	D	0.89253	0.3592	10	0.36615	T	0.2	.	14.8479	0.70272	0.0:0.0:0.0:1.0	.	144;144;144;144;144	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	V	144;144;144;144;144;88;144;144;144;144	ENSP00000327687:D144V;ENSP00000373777:D144V;ENSP00000382797:D144V;ENSP00000382798:D144V;ENSP00000446326:D144V;ENSP00000373776:D144V;ENSP00000382791:D144V;ENSP00000382793:D144V;ENSP00000311646:D144V	ENSP00000311646:D144V	D	-	2	0	GRIK1	29984032	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.441000	0.80485	2.158000	0.67659	0.533000	0.62120	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	60	0	T			31062161	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	A
GRIK4	2900	genome.wustl.edu	37	11	120531108	120531108	+	Splice_Site	SNP	C	C	T	rs142046109		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:120531108C>T	ENST00000527524.2	+	3	368	c.81C>T	c.(79-81)atC>atT	p.I27I	GRIK4_ENST00000438375.2_Splice_Site_p.I27I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	27					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCTTGAGGATCGGTAAGTGTG	0.622											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	52.0	44.0	47.0		81	-6.3	0.9	11	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice	GRIK4	NM_014619.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		27/957	120531108	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.82+1C>T	11.37:g.120531108C>T		1504	A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I27	ENST00000527524.2	37	c.81	CCDS8433.1	11																																																																																			GRIK4	-	superfamily_Peripla_BP_I	ENSG00000149403		0.622	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0.00	58	0	C	NM_014619	Silent	120531108	+1			no_errors	ENST00000527524	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.494	T
GRK4	2868	genome.wustl.edu	37	4	3040279	3040280	+	Intron	INS	-	-	A	rs11451355|rs397768434|rs201765413	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:3040279_3040280insA	ENST00000398052.4	+	15	2026				GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Intron|GRK4_ENST00000504933.1_Intron|GRK4_ENST00000345167.6_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4						G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGTGTATGTGAAAAAAAAAAA	0.396													|||unknown(HR)	2283	0.455871	0.4501	0.451	5008	,	,		18701	0.4405		0.4165	False		,,,				2504	0.5235																0																																										SO:0001627	intron_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1683+39->A	4.37:g.3040290_3040290dupA			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	RNA	INS	-	NULL	ENST00000398052.4	37	NULL	CCDS33946.1	4																																																																																			GRK4	-	-	ENSG00000125388		0.396	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2		0.00	8	0	-	NM_005307		3040280	+1	tier1		no_errors	ENST00000504308	ensembl	human	known	74_37	rna	30.00	7	3	INS	0.000:0.002	A
GRM8	2918	genome.wustl.edu	37	7	126086144	126086144	+	Intron	SNP	C	C	T	rs199813417		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:126086144C>T	ENST00000339582.2	-	10	3486				GRM8_ENST00000358373.3_Missense_Mutation_p.G905R|GRM8_ENST00000444921.2_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAAGTGCTCCCGCTCTTGACC	0.448										HNSCC(24;0.065)																																							0													139.0	132.0	134.0					7																	126086144		2203	4300	6503	SO:0001627	intron_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2677+35G>A	7.37:g.126086144C>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.G905R	ENST00000339582.2	37	c.2713	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130925	0.56828	.	.	ENSG00000179603	ENST00000358373	D	0.88818	-2.43	6.07	6.07	0.98685	.	.	.	.	.	T	0.80177	0.4575	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.08055	0.003	T	0.73733	-0.3890	9	0.41790	T	0.15	.	17.8085	0.88608	0.0:1.0:0.0:0.0	.	905	O00222-2	.	R	905	ENSP00000351142:G905R	ENSP00000351142:G905R	G	-	1	0	GRM8	125873380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	2.890000	0.99128	0.585000	0.79938	GGG	GRM8	-	NULL	ENSG00000179603		0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	40	0	C			126086144	-1			no_errors	ENST00000358373	ensembl	human	known	74_37	missense	8.00	45	4	SNP	1.000	T
GTF2H5	404672	genome.wustl.edu	37	6	158613099	158613099	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:158613099C>T	ENST00000607778.1	+	3	204	c.126C>T	c.(124-126)caC>caT	p.H42H		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	42					cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		ATGACACTCACGTCTTTGTAA	0.423								Nucleotide excision repair (NER)																																									0													141.0	123.0	129.0					6																	158613099		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	21157	protein-coding gene	gene with protein product	"""DNA repair syndrome trichothiodystrophy group A"""	608780	"""chromosome 6 open reading frame 175"", ""trichothiodystrophy"""	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.126C>T	6.37:g.158613099C>T			Q0P5V8	Silent	SNP	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	p.H42	ENST00000607778.1	37	c.126	CCDS5256.1	6																																																																																			GTF2H5	-	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	ENSG00000272047		0.423	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H5	HGNC	protein_coding	OTTHUMT00000042865.2	-	0.00	99	0	C	NM_207118		158613099	+1	tier1	-	no_errors	ENST00000607778	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.649	T
GUCY2D	3000	genome.wustl.edu	37	17	7909879	7909879	+	Missense_Mutation	SNP	G	G	A	rs144565168		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7909879G>A	ENST00000254854.4	+	4	1375	c.1225G>A	c.(1225-1227)Gcg>Acg	p.A409T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	409					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				AGACACGGACGCGGCGGGAGA	0.672																																																	0								G	THR/ALA	0,4406		0,0,2203	31.0	32.0	31.0		1225	5.2	0.0	17	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	no	missense	GUCY2D	NM_000180.3	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	409/1104	7909879	1,13003	2203	4299	6502	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1225G>A	17.37:g.7909879G>A	ENSP00000254854:p.Ala409Thr		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A409T	ENST00000254854.4	37	c.1225	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665859	0.67700	0.0	1.16E-4	ENSG00000132518	ENST00000254854	T	0.74002	-0.8	5.15	5.15	0.70609	.	0.341504	0.21337	N	0.076199	T	0.64735	0.2625	M	0.63428	1.95	0.33032	D	0.530342	P	0.46656	0.882	B	0.26416	0.069	T	0.73474	-0.3971	10	0.15952	T	0.53	.	17.3912	0.87431	0.0:0.0:1.0:0.0	.	409	Q02846	GUC2D_HUMAN	T	409	ENSP00000254854:A409T	ENSP00000254854:A409T	A	+	1	0	GUCY2D	7850604	0.889000	0.30405	0.026000	0.17262	0.102000	0.19082	3.407000	0.52644	2.401000	0.81631	0.561000	0.74099	GCG	GUCY2D	-	superfamily_Peripla_BP_I	ENSG00000132518		0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0.00	65	0	G			7909879	+1	tier1	rs144565168	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.908	A
GUCY2D	3000	genome.wustl.edu	37	17	7917315	7917315	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7917315T>G	ENST00000254854.4	+	12	2531	c.2381T>G	c.(2380-2382)cTt>cGt	p.L794R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGCCGGAACTTCGGCCCTCC	0.637																																																	0													81.0	80.0	80.0					17																	7917315		2203	4300	6503	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2381T>G	17.37:g.7917315T>G	ENSP00000254854:p.Leu794Arg		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L794R	ENST00000254854.4	37	c.2381	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	T	1.382	-0.583266	0.03827	.	.	ENSG00000132518	ENST00000254854	D	0.81996	-1.56	5.44	3.1	0.35709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146393	0.32028	N	0.006698	T	0.56321	0.1977	N	0.01761	-0.735	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.46119	-0.9214	10	0.24483	T	0.36	.	6.078	0.19925	0.3655:0.0:0.132:0.5025	.	794	Q02846	GUC2D_HUMAN	R	794	ENSP00000254854:L794R	ENSP00000254854:L794R	L	+	2	0	GUCY2D	7858040	0.001000	0.12720	0.860000	0.33809	0.857000	0.48899	0.914000	0.28624	1.052000	0.40392	0.533000	0.62120	CTT	GUCY2D	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000132518		0.637	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0.00	54	0	T			7917315	+1	tier1	-	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.001	G
HAS3	3038	genome.wustl.edu	37	16	69148882	69148882	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:69148882G>A	ENST00000306560.1	+	4	1531	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A459T	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	459					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTTGCCATTGCTACCATCAA	0.527																																																	0													148.0	139.0	142.0					16																	69148882		2198	4300	6498	SO:0001583	missense	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1375G>A	16.37:g.69148882G>A	ENSP00000304440:p.Ala459Thr		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A459T	ENST00000306560.1	37	c.1375	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331851	0.41297	.	.	ENSG00000103044	ENST00000306560	T	0.47177	0.85	6.06	6.06	0.98353	.	0.163420	0.56097	D	0.000021	T	0.44891	0.1315	M	0.65975	2.015	0.40444	D	0.980078	P	0.41313	0.745	B	0.35550	0.205	T	0.47129	-0.9141	10	0.39692	T	0.17	-21.104	13.4323	0.61062	0.0719:0.0:0.9281:0.0	.	459	O00219	HAS3_HUMAN	T	459	ENSP00000304440:A459T	ENSP00000304440:A459T	A	+	1	0	HAS3	67706383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.316000	0.59178	2.882000	0.98803	0.655000	0.94253	GCT	HAS3	-	NULL	ENSG00000103044		0.527	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	-	0.00	54	0	G	NM_138612		69148882	+1	tier1	-	no_errors	ENST00000306560	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A
HAS3	3038	genome.wustl.edu	37	16	69148882	69148882	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:69148882G>A	ENST00000306560.1	+	4	1531	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A459T	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	459					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTTGCCATTGCTACCATCAA	0.527																																																	0													148.0	139.0	142.0					16																	69148882		2198	4300	6498	SO:0001583	missense	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1375G>A	16.37:g.69148882G>A	ENSP00000304440:p.Ala459Thr		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A459T	ENST00000306560.1	37	c.1375	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331851	0.41297	.	.	ENSG00000103044	ENST00000306560	T	0.47177	0.85	6.06	6.06	0.98353	.	0.163420	0.56097	D	0.000021	T	0.44891	0.1315	M	0.65975	2.015	0.40444	D	0.980078	P	0.41313	0.745	B	0.35550	0.205	T	0.47129	-0.9141	10	0.39692	T	0.17	-21.104	13.4323	0.61062	0.0719:0.0:0.9281:0.0	.	459	O00219	HAS3_HUMAN	T	459	ENSP00000304440:A459T	ENSP00000304440:A459T	A	+	1	0	HAS3	67706383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.316000	0.59178	2.882000	0.98803	0.655000	0.94253	GCT	HAS3	-	NULL	ENSG00000103044		0.527	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	-	0.00	73	0	G	NM_138612		69148882	+1	tier1	-	no_errors	ENST00000306560	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A
HCN3	57657	genome.wustl.edu	37	1	155255005	155255005	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:155255005C>T	ENST00000368358.3	+	5	1147	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	380					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGCAGACACGCGGCAGCGC	0.602																																																	0													75.0	67.0	70.0					1																	155255005		2203	4300	6503	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1139C>T	1.37:g.155255005C>T	ENSP00000357342:p.Thr380Met		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T380M	ENST00000368358.3	37	c.1139	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994297	0.19043	.	.	ENSG00000143630	ENST00000368358	D	0.96651	-4.08	5.21	4.28	0.50868	Cyclic nucleotide-binding-like (1);	0.000000	0.52532	D	0.000062	T	0.80706	0.4674	N	0.02916	-0.46	0.41120	D	0.985803	B;B	0.31459	0.324;0.039	B;B	0.23419	0.046;0.007	T	0.81243	-0.1021	10	0.21540	T	0.41	.	11.1233	0.48304	0.0:0.9095:0.0:0.0905	.	75;380	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	M	380	ENSP00000357342:T380M	ENSP00000357342:T380M	T	+	2	0	HCN3	153521629	0.898000	0.30612	0.952000	0.39060	0.989000	0.77384	1.517000	0.35867	2.590000	0.87494	0.563000	0.77884	ACG	HCN3	-	superfamily_cNMP-bd-like	ENSG00000143630		0.602	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	-	0.00	128	0	C	NM_020897		155255005	+1	tier1	-	no_errors	ENST00000368358	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.992	T
HCN3	57657	genome.wustl.edu	37	1	155255005	155255005	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:155255005C>T	ENST00000368358.3	+	5	1147	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	380					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGCAGACACGCGGCAGCGC	0.602																																																	0													75.0	67.0	70.0					1																	155255005		2203	4300	6503	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1139C>T	1.37:g.155255005C>T	ENSP00000357342:p.Thr380Met		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T380M	ENST00000368358.3	37	c.1139	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994297	0.19043	.	.	ENSG00000143630	ENST00000368358	D	0.96651	-4.08	5.21	4.28	0.50868	Cyclic nucleotide-binding-like (1);	0.000000	0.52532	D	0.000062	T	0.80706	0.4674	N	0.02916	-0.46	0.41120	D	0.985803	B;B	0.31459	0.324;0.039	B;B	0.23419	0.046;0.007	T	0.81243	-0.1021	10	0.21540	T	0.41	.	11.1233	0.48304	0.0:0.9095:0.0:0.0905	.	75;380	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	M	380	ENSP00000357342:T380M	ENSP00000357342:T380M	T	+	2	0	HCN3	153521629	0.898000	0.30612	0.952000	0.39060	0.989000	0.77384	1.517000	0.35867	2.590000	0.87494	0.563000	0.77884	ACG	HCN3	-	superfamily_cNMP-bd-like	ENSG00000143630		0.602	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	-	0.00	71	0	C	NM_020897		155255005	+1	tier1	-	no_errors	ENST00000368358	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.992	T
HEATR5B	54497	genome.wustl.edu	37	2	37255142	37255142	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:37255142G>A	ENST00000233099.5	-	24	3872	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	HEATR5B_ENST00000354531.2_Silent_p.I1259I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1259						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACACAAATTGATGATTCGAC	0.443																																																	0													95.0	96.0	96.0					2																	37255142		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3777C>T	2.37:g.37255142G>A			B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	superfamily_ARM-type_fold	p.I1259	ENST00000233099.5	37	c.3777	CCDS33181.1	2																																																																																			HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0.00	97	0	G	NM_019024		37255142	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	silent	8.79	83	8	SNP	0.996	A
HID1	283987	genome.wustl.edu	37	17	72957985	72957985	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72957985A>C	ENST00000425042.2	-	6	788	c.711T>G	c.(709-711)ttT>ttG	p.F237L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	237					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CCGTGGAACAAAAGAACTGAA	0.572											OREG0024723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	85.0	83.0					17																	72957985		2203	4300	6503	SO:0001583	missense	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.711T>G	17.37:g.72957985A>C	ENSP00000413520:p.Phe237Leu	1141	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	pfam_Dymeclin	p.F237L	ENST00000425042.2	37	c.711	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	a	17.75	3.465944	0.63625	.	.	ENSG00000167861	ENST00000425042;ENST00000530857	.	.	.	4.99	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.41356	1.27	0.58432	D	0.999999	B;B	0.18968	0.032;0.02	B;B	0.24006	0.05;0.029	T	0.12967	-1.0527	9	0.23891	T	0.37	.	7.3983	0.26950	0.4948:0.0:0.5052:0.0	.	236;237	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	237;129	.	ENSP00000413520:F237L	F	-	3	2	C17orf28	70469580	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.823000	0.39062	0.270000	0.21984	0.255000	0.18592	TTT	HID1	-	NULL	ENSG00000167861		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	-	0.00	172	0	A	NM_030630		72957985	-1	tier1	-	no_errors	ENST00000425042	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	C
HID1	283987	genome.wustl.edu	37	17	72957985	72957985	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:72957985A>C	ENST00000425042.2	-	6	788	c.711T>G	c.(709-711)ttT>ttG	p.F237L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	237					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CCGTGGAACAAAAGAACTGAA	0.572											OREG0024723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	85.0	83.0					17																	72957985		2203	4300	6503	SO:0001583	missense	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.711T>G	17.37:g.72957985A>C	ENSP00000413520:p.Phe237Leu	1141	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	pfam_Dymeclin	p.F237L	ENST00000425042.2	37	c.711	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	a	17.75	3.465944	0.63625	.	.	ENSG00000167861	ENST00000425042;ENST00000530857	.	.	.	4.99	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.41356	1.27	0.58432	D	0.999999	B;B	0.18968	0.032;0.02	B;B	0.24006	0.05;0.029	T	0.12967	-1.0527	9	0.23891	T	0.37	.	7.3983	0.26950	0.4948:0.0:0.5052:0.0	.	236;237	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	237;129	.	ENSP00000413520:F237L	F	-	3	2	C17orf28	70469580	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.823000	0.39062	0.270000	0.21984	0.255000	0.18592	TTT	HID1	-	NULL	ENSG00000167861		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	-	0.00	78	0	A	NM_030630		72957985	-1	tier1	-	no_errors	ENST00000425042	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	C
HIST1H2BB	3018	genome.wustl.edu	37	6	26043546	26043546	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:26043546C>T	ENST00000357905.2	-	1	339	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGTGCCCTCGGACACAGCA	0.527																																																	0													39.0	39.0	39.0					6																	26043546		2203	4300	6503	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.340G>A	6.37:g.26043546C>T	ENSP00000350580:p.Glu114Lys		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114K	ENST00000357905.2	37	c.340	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	c	13.76	2.332360	0.41297	.	.	ENSG00000196226	ENST00000357905	T	0.48201	0.82	5.08	5.08	0.68730	Histone-fold (2);	0.000000	0.64402	U	0.000019	T	0.40767	0.1130	M	0.78801	2.425	0.50171	D	0.999857	B	0.14805	0.011	B	0.08055	0.003	T	0.43589	-0.9382	10	0.52906	T	0.07	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	114	P33778	H2B1B_HUMAN	K	114	ENSP00000350580:E114K	ENSP00000350580:E114K	E	-	1	0	HIST1H2BB	26151525	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	7.756000	0.85195	2.498000	0.84270	0.467000	0.42956	GAG	HIST1H2BB	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196226		0.527	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	-	0.00	97	0	C	NM_021062		26043546	-1	tier1	-	no_errors	ENST00000357905	ensembl	human	known	74_37	missense	9.17	109	11	SNP	1.000	T
HIST1H4K	8362	genome.wustl.edu	37	6	27799259	27799259	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:27799259G>A	ENST00000357549.2	-	1	46	c.47C>T	c.(46-48)gCt>gTt	p.A16V		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	16					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGCGCTTAGCGCCGCCTTT	0.647																																																	0													7.0	9.0	9.0					6																	27799259		1917	3842	5759	SO:0001583	missense	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.47C>T	6.37:g.27799259G>A	ENSP00000350159:p.Ala16Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.A16V	ENST00000357549.2	37	c.47	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945046	0.53079	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.05	4.05	0.47172	.	0.000000	0.52532	U	0.000073	T	0.68016	0.2955	.	.	.	0.39741	D	0.97174	.	.	.	.	.	.	T	0.73563	-0.3943	6	0.62326	D	0.03	.	15.6683	0.77252	0.0:0.0:1.0:0.0	.	.	.	.	V	16	.	ENSP00000350159:A16V	A	-	2	0	HIST1H4K	27907238	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	8.763000	0.91715	1.981000	0.57761	0.644000	0.83932	GCT	HIST1H4K	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	ENSG00000197914		0.647	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1		0.00	85	0	G	NM_003541		27799259	-1			no_errors	ENST00000357549	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	A
HKDC1	80201	genome.wustl.edu	37	10	71018676	71018676	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:71018676C>T	ENST00000354624.5	+	15	2310	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M	HKDC1_ENST00000395086.2_Missense_Mutation_p.T726M	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	726	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGATACGACACGGAGGTGGAT	0.517																																																	0													143.0	113.0	123.0					10																	71018676		2203	4300	6503	SO:0001583	missense	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2177C>T	10.37:g.71018676C>T	ENSP00000346643:p.Thr726Met		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.T726M	ENST00000354624.5	37	c.2177	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025155	0.35701	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.96334	-3.98;-3.98	5.39	0.377	0.16198	Hexokinase, C-terminal (1);	0.874102	0.10171	N	0.707142	D	0.88658	0.6496	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.80308	-0.1437	10	0.59425	D	0.04	-12.9465	1.903	0.03271	0.4425:0.272:0.1727:0.1128	.	726	Q2TB90	HKDC1_HUMAN	M	726	ENSP00000346643:T726M;ENSP00000378521:T726M	ENSP00000346643:T726M	T	+	2	0	HKDC1	70688682	0.000000	0.05858	1.000000	0.80357	0.935000	0.57460	-1.692000	0.01918	0.867000	0.35654	0.455000	0.32223	ACG	HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.517	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	-	0.00	35	0	C	NM_025130		71018676	+1	tier1	-	no_errors	ENST00000354624	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.415	T
HLA-A	3105	genome.wustl.edu	37	6	29912284	29912284	+	Silent	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:29912284T>G	ENST00000396634.1	+	7	1244	c.903T>G	c.(901-903)tcT>tcG	p.S301S	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.S301S|HLA-A_ENST00000376806.5_Silent_p.S301S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	301	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAGAGCTGTCTTCCCAGCCCA	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													83.0	78.0	80.0					6																	29912284		1511	2709	4220	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.903T>G	6.37:g.29912284T>G			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.S301	ENST00000396634.1	37	c.903	CCDS34373.1	6																																																																																			HLA-A	-	NULL	ENSG00000206503		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	0.00	163	0	T	NM_002116		29912284	+1	tier1	-	no_errors	ENST00000376806	ensembl	human	known	74_37	silent	7.50	148	12	SNP	0.000	G
HLA-A	3105	genome.wustl.edu	37	6	29912284	29912284	+	Silent	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:29912284T>G	ENST00000396634.1	+	7	1244	c.903T>G	c.(901-903)tcT>tcG	p.S301S	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.S301S|HLA-A_ENST00000376806.5_Silent_p.S301S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	301	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAGAGCTGTCTTCCCAGCCCA	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													83.0	78.0	80.0					6																	29912284		1511	2709	4220	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.903T>G	6.37:g.29912284T>G			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.S301	ENST00000396634.1	37	c.903	CCDS34373.1	6																																																																																			HLA-A	-	NULL	ENSG00000206503		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	0.00	233	0	T	NM_002116		29912284	+1	tier1	-	no_errors	ENST00000376806	ensembl	human	known	74_37	silent	7.50	148	12	SNP	0.000	G
HLA-B	3106	genome.wustl.edu	37	6	31323208	31323208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:31323208C>A	ENST00000412585.2	-	4	809	c.781G>T	c.(781-783)Gga>Tga	p.G261*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	261	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTTCTATCTCCTGCTGGTCTG	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													96.0	82.0	87.0					6																	31323208		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.781G>T	6.37:g.31323208C>A	ENSP00000399168:p.Gly261*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.G261*	ENST00000412585.2	37	c.781	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.51	1.661376	0.29515	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.172435	0.27185	U	0.020521	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5215	0.33279	0.0:0.7604:0.2395:0.0	.	.	.	.	X	261;140;140	.	ENSP00000399168:G261X	G	-	1	0	HLA-B	31431187	0.000000	0.05858	0.217000	0.23759	0.062000	0.15995	0.376000	0.20535	1.804000	0.52760	0.442000	0.29010	GGA	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000234745		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0.00	134	0	C	NM_005514		31323208	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	nonsense	9.52	114	12	SNP	0.252	A
HMCN1	83872	genome.wustl.edu	37	1	186088917	186088917	+	Silent	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:186088917C>G	ENST00000271588.4	+	79	12226	c.11997C>G	c.(11995-11997)gtC>gtG	p.V3999V	HMCN1_ENST00000367492.2_Silent_p.V3999V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3999	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTACACGTCATTCTGAACA	0.373																																																	0													97.0	90.0	93.0					1																	186088917		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11997C>G	1.37:g.186088917C>G			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V3999	ENST00000271588.4	37	c.11997	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	53	0	C	NM_031935		186088917	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	silent	7.32	76	6	SNP	1.000	G
HMCN1	83872	genome.wustl.edu	37	1	186097328	186097328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:186097328C>A	ENST00000271588.4	+	83	13038	c.12809C>A	c.(12808-12810)tCa>tAa	p.S4270*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S4270*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4270	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S4270*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAGACGTGTCATTAAATAAA	0.413																																																	1	Substitution - Nonsense(1)	large_intestine(1)											117.0	105.0	109.0					1																	186097328		2203	4300	6503	SO:0001587	stop_gained	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12809C>A	1.37:g.186097328C>A	ENSP00000271588:p.Ser4270*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S4270*	ENST00000271588.4	37	c.12809	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	55	24.041056	0.99958	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.36	5.36	0.76844	.	0.171002	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3837	0.60783	0.0:0.9244:0.0:0.0756	.	.	.	.	X	4270	.	ENSP00000271588:S4270X	S	+	2	0	HMCN1	184363951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.757000	0.68766	2.502000	0.84385	0.585000	0.79938	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	59	0	C	NM_031935		186097328	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	17.65	70	15	SNP	1.000	A
HNRNPF	3185	genome.wustl.edu	37	10	43882717	43882717	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:43882717G>A	ENST00000544000.1	-	4	1023	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	HNRNPF_ENST00000357065.4_Missense_Mutation_p.R206W|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R206W|HNRNPF_ENST00000356053.3_Missense_Mutation_p.R206W|HNRNPF_ENST00000443950.2_Missense_Mutation_p.R206W	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGCCCTGGCCGCTGCACGGAC	0.582																																																	0													71.0	68.0	69.0					10																	43882717		2203	4300	6503	SO:0001583	missense	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.616C>T	10.37:g.43882717G>A	ENSP00000438061:p.Arg206Trp		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.R206W	ENST00000544000.1	37	c.616	CCDS7204.1	10	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111295	0.20714	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	3.85	-1.66	0.08265	.	0.052122	0.64402	N	0.000001	T	0.09555	0.0235	L	0.46157	1.445	0.58432	D	0.999999	B	0.19445	0.036	B	0.18561	0.022	T	0.12630	-1.0540	10	0.41790	T	0.15	-11.1458	4.759	0.13099	0.1751:0.0:0.3938:0.4311	.	206	P52597	HNRPF_HUMAN	W	206;206;206;206;206;129	ENSP00000438061:R206W;ENSP00000400433:R206W;ENSP00000348345:R206W;ENSP00000349573:R206W;ENSP00000338477:R206W	ENSP00000338477:R206W	R	-	1	2	HNRNPF	43202723	1.000000	0.71417	0.925000	0.36789	0.964000	0.63967	2.420000	0.44679	-0.314000	0.08716	-0.894000	0.02916	CGG	HNRNPF	-	NULL	ENSG00000169813		0.582	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2		0.00	45	0	G			43882717	-1			no_errors	ENST00000337970	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	A
HNRNPH3	3189	genome.wustl.edu	37	10	70097637	70097637	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:70097637G>A	ENST00000265866.7	+	3	300	c.135G>A	c.(133-135)ggG>ggA	p.G45G	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Silent_p.G45G|HNRNPH3_ENST00000441000.2_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TGCCAAATGGGATAACATTGA	0.458																																																	0													154.0	145.0	148.0					10																	70097637		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.135G>A	10.37:g.70097637G>A			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G45	ENST00000265866.7	37	c.135	CCDS7278.1	10																																																																																			HNRNPH3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000096746		0.458	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	-	0.00	81	0	G			70097637	+1	tier1	-	no_errors	ENST00000265866	ensembl	human	known	74_37	silent	11.11	80	10	SNP	1.000	A
HNRNPH3	3189	genome.wustl.edu	37	10	70097637	70097637	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:70097637G>A	ENST00000265866.7	+	3	300	c.135G>A	c.(133-135)ggG>ggA	p.G45G	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Silent_p.G45G|HNRNPH3_ENST00000441000.2_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TGCCAAATGGGATAACATTGA	0.458																																																	0													154.0	145.0	148.0					10																	70097637		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.135G>A	10.37:g.70097637G>A			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G45	ENST00000265866.7	37	c.135	CCDS7278.1	10																																																																																			HNRNPH3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000096746		0.458	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	-	0.00	96	0	G			70097637	+1	tier1	-	no_errors	ENST00000265866	ensembl	human	known	74_37	silent	11.11	80	10	SNP	1.000	A
HOXB9	3219	genome.wustl.edu	37	17	46700458	46700458	+	Missense_Mutation	SNP	C	C	T	rs367616249		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:46700458C>T	ENST00000311177.5	-	2	764	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Silent_p.P106P	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	186					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCGCTTTTTCCGGGAAGAGCG	0.547																																																	0								C	GLN/ARG	0,4406		0,0,2203	143.0	134.0	137.0		557	5.7	1.0	17		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOXB9	NM_024017.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/251	46700458	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.557G>A	17.37:g.46700458C>T	ENSP00000309439:p.Arg186Gln		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R186Q	ENST00000311177.5	37	c.557	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.070207	0.97256	0.0	1.16E-4	ENSG00000170689	ENST00000311177	D	0.97209	-4.29	5.71	5.71	0.89125	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	.	19.8408	0.96685	0.0:1.0:0.0:0.0	.	186	P17482	HXB9_HUMAN	Q	186	ENSP00000309439:R186Q	ENSP00000309439:R186Q	R	-	2	0	HOXB9	44055457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	CGG	HOXB9	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom	ENSG00000170689		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2		0.00	84	0	C			46700458	-1			no_errors	ENST00000311177	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
HYOU1	10525	genome.wustl.edu	37	11	118917347	118917347	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:118917347C>A	ENST00000404233.3	-	23	2887	c.2763G>T	c.(2761-2763)aaG>aaT	p.K921N	HYOU1_ENST00000529972.1_Missense_Mutation_p.K859N|HYOU1_ENST00000525859.1_Missense_Mutation_p.K859N|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	921					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGTCCCATTCTTGTCCTTAG	0.577																																																	0													111.0	113.0	113.0					11																	118917347		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2763G>T	11.37:g.118917347C>A	ENSP00000384144:p.Lys921Asn		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K921N	ENST00000404233.3	37	c.2763	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567300	0.28003	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01599	4.75;4.74;4.74	6.04	6.04	0.98038	.	0.045642	0.85682	D	0.000000	T	0.02929	0.0087	L	0.40543	1.245	0.80722	D	1	P;P;B;B	0.52577	0.954;0.501;0.408;0.408	P;B;B;B	0.45377	0.478;0.157;0.062;0.062	T	0.66444	-0.5922	10	0.27785	T	0.31	-41.9428	15.3129	0.74048	0.1398:0.8602:0.0:0.0	.	912;903;921;921	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	N	921;912;859;770;859;902	ENSP00000384144:K921N;ENSP00000437313:K859N;ENSP00000433397:K859N	ENSP00000278752:K912N	K	-	3	2	HYOU1	118422557	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	4.105000	0.57797	2.873000	0.98535	0.561000	0.74099	AAG	HYOU1	-	NULL	ENSG00000149428		0.577	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1		0.00	80	0	C	NM_006389		118917347	-1			no_errors	ENST00000404233	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A
IBTK	25998	genome.wustl.edu	37	6	82924426	82924426	+	Silent	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:82924426G>C	ENST00000306270.7	-	12	2271	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Silent_p.L574L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	574	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GTGCAGGGAAGAGTCTATTGC	0.353																																																	0													72.0	72.0	72.0					6																	82924426		2203	4300	6503	SO:0001819	synonymous_variant	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1722C>G	6.37:g.82924426G>C			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.L574	ENST00000306270.7	37	c.1722	CCDS34490.1	6																																																																																			IBTK	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000005700		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2		0.00	23	0	G	NM_015525		82924426	-1			no_errors	ENST00000306270	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.998	C
IFNE	338376	genome.wustl.edu	37	9	21481217	21481217	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:21481217G>T	ENST00000448696.3	-	1	1095	c.477C>A	c.(475-477)gaC>gaA	p.D159E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	159					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AGGTGCTGTAGTCCTGGTTTT	0.438																																																	0													163.0	157.0	159.0					9																	21481217		2203	4300	6503	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.477C>A	9.37:g.21481217G>T	ENSP00000418018:p.Asp159Glu			Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D159E	ENST00000448696.3	37	c.477	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.978533	0.00448	.	.	ENSG00000184995	ENST00000448696	T	0.15256	2.44	4.93	-7.15	0.01521	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.065370	0.07300	N	0.873878	T	0.04634	0.0126	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46775	-0.9167	10	0.27785	T	0.31	.	9.8586	0.41101	0.0:0.3706:0.4636:0.1658	.	159	Q86WN2	IFNE_HUMAN	E	159	ENSP00000418018:D159E	ENSP00000418018:D159E	D	-	3	2	IFNE	21471217	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.431000	0.02432	-1.591000	0.01621	-0.262000	0.10625	GAC	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.438	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2	-	0.00	46	0	G	NM_176891		21481217	-1	tier1	-	no_errors	ENST00000448696	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T
IFNE	338376	genome.wustl.edu	37	9	21481217	21481217	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:21481217G>T	ENST00000448696.3	-	1	1095	c.477C>A	c.(475-477)gaC>gaA	p.D159E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	159					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AGGTGCTGTAGTCCTGGTTTT	0.438																																																	0													163.0	157.0	159.0					9																	21481217		2203	4300	6503	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.477C>A	9.37:g.21481217G>T	ENSP00000418018:p.Asp159Glu			Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D159E	ENST00000448696.3	37	c.477	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.978533	0.00448	.	.	ENSG00000184995	ENST00000448696	T	0.15256	2.44	4.93	-7.15	0.01521	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.065370	0.07300	N	0.873878	T	0.04634	0.0126	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46775	-0.9167	10	0.27785	T	0.31	.	9.8586	0.41101	0.0:0.3706:0.4636:0.1658	.	159	Q86WN2	IFNE_HUMAN	E	159	ENSP00000418018:D159E	ENSP00000418018:D159E	D	-	3	2	IFNE	21471217	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.431000	0.02432	-1.591000	0.01621	-0.262000	0.10625	GAC	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.438	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2	-	0.00	72	0	G	NM_176891		21481217	-1	tier1	-	no_errors	ENST00000448696	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T
IGF2R	3482	genome.wustl.edu	37	6	160471608	160471608	+	Missense_Mutation	SNP	C	C	T	rs199514599		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:160471608C>T	ENST00000356956.1	+	19	2766	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	873					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTGAATGGGTCGGCCTGCACC	0.582																																																	0								C	LEU/SER	0,4406		0,0,2203	89.0	77.0	81.0		2618	5.3	0.0	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	873/2492	160471608	1,13005	2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2618C>T	6.37:g.160471608C>T	ENSP00000349437:p.Ser873Leu		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S873L	ENST00000356956.1	37	c.2618	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620958	0.66787	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02177	4.41	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.055817	0.85682	D	0.000000	T	0.09468	0.0233	M	0.87328	2.875	0.51482	D	0.99992	D	0.89917	1.0	D	0.65323	0.934	T	0.01360	-1.1375	10	0.59425	D	0.04	-4.7741	17.0651	0.86557	0.0:1.0:0.0:0.0	.	873	P11717	MPRI_HUMAN	L	873	ENSP00000349437:S873L	ENSP00000349437:S873L	S	+	2	0	IGF2R	160391598	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	6.831000	0.75324	2.469000	0.83416	0.491000	0.48974	TCG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0.00	45	0	C	NM_000876		160471608	+1	tier1	rs199514599	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
IGF2R	3482	genome.wustl.edu	37	6	160471608	160471608	+	Missense_Mutation	SNP	C	C	T	rs199514599		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:160471608C>T	ENST00000356956.1	+	19	2766	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	873					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTGAATGGGTCGGCCTGCACC	0.582																																																	0								C	LEU/SER	0,4406		0,0,2203	89.0	77.0	81.0		2618	5.3	0.0	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	873/2492	160471608	1,13005	2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2618C>T	6.37:g.160471608C>T	ENSP00000349437:p.Ser873Leu		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S873L	ENST00000356956.1	37	c.2618	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620958	0.66787	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02177	4.41	5.27	5.27	0.74061	Mannose-6-phosphate receptor, binding (1);	0.055817	0.85682	D	0.000000	T	0.09468	0.0233	M	0.87328	2.875	0.51482	D	0.99992	D	0.89917	1.0	D	0.65323	0.934	T	0.01360	-1.1375	10	0.59425	D	0.04	-4.7741	17.0651	0.86557	0.0:1.0:0.0:0.0	.	873	P11717	MPRI_HUMAN	L	873	ENSP00000349437:S873L	ENSP00000349437:S873L	S	+	2	0	IGF2R	160391598	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	6.831000	0.75324	2.469000	0.83416	0.491000	0.48974	TCG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0.00	64	0	C	NM_000876		160471608	+1	tier1	rs199514599	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
IGFBP3	3486	genome.wustl.edu	37	7	45957003	45957003	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:45957003C>T	ENST00000275521.6	-	2	572	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	IGFBP3_ENST00000381083.4_Missense_Mutation_p.G153S|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.G50S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	147	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCCACACTGCCGGCGCTGCGG	0.498											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57.0	57.0	57.0					7																	45957003		2203	4300	6503	SO:0001583	missense	0				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.439G>A	7.37:g.45957003C>T	ENSP00000275521:p.Gly147Ser	935	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1	p.G153S	ENST00000275521.6	37	c.457	CCDS5505.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.94|10.94	1.492205|1.492205	0.26774|0.26774	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	T;T;T;T|.	0.22743|.	2.54;1.94;2.54;2.07|.	5.55|5.55	-0.00787|-0.00787	0.14007|0.14007	.|.	3.182860|.	0.01361|.	N|.	0.012231|.	T|T	0.30070|0.30070	0.0753|0.0753	L|L	0.28504|0.28504	0.86|0.86	0.09310|0.09310	N|N	1|1	B;B;B|.	0.20988|.	0.05;0.035;0.035|.	B;B;B|.	0.14023|.	0.007;0.01;0.007|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|5	0.17369|.	T|.	0.5|.	-22.7846|-22.7846	7.2658|7.2658	0.26229|0.26229	0.0:0.4264:0.0:0.5736|0.0:0.4264:0.0:0.5736	.|.	50;147;132|.	B3KWK7;P17936;B4DN53|.	.;IBP3_HUMAN;.|.	S|Q	124;147;50;133;45;153;119;37|8	ENSP00000275521:G147S;ENSP00000370476:G50S;ENSP00000370473:G153S;ENSP00000389668:G37S|.	ENSP00000275521:G147S|.	G|R	-|-	1|2	0|0	IGFBP3|IGFBP3	45923528|45923528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.715000|0.715000	0.25822|0.25822	0.060000|0.060000	0.16281|0.16281	-0.781000|-0.781000	0.03364|0.03364	GGC|CGG	IGFBP3	-	NULL	ENSG00000146674		0.498	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFBP3	HGNC	protein_coding	OTTHUMT00000251356.3	-	0.00	59	0	C	NM_001013398		45957003	-1	tier1	-	no_errors	ENST00000381083	ensembl	human	known	74_37	missense	18.92	29	7	SNP	0.000	T
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862666	10862666	+	RNA	SNP	G	G	A	rs529394205		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:10862666G>A	ENST00000559480.1	+	0	45							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCATAGCTGCGGGTAGGATAA	0.522													.|||	1	0.000199681	0.0	0.0	5008	,	,		37980	0.001		0.0	False		,,,				2504	0.0																0													337.0	321.0	326.0					21																	10862666		1961	4154	6115			0					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862666G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A15	ENST00000559480.1	37	c.45		21																																																																																			IGHV1OR21-1	-	NULL	ENSG00000169861		0.522	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		-	0.00	251	0	G	NG_011680		10862666	+1	tier1	-	no_errors	ENST00000559480	ensembl	human	known	74_37	silent	25.23	160	54	SNP	0.620	A
IKBKAP	8518	genome.wustl.edu	37	9	111681124	111681124	+	Missense_Mutation	SNP	G	G	A	rs374008013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111681124G>A	ENST00000374647.5	-	8	1014	c.707C>T	c.(706-708)cCt>cTt	p.P236L	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	236					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGCCACAGGCTCACTGGT	0.512																																																	0													101.0	104.0	103.0					9																	111681124		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.707C>T	9.37:g.111681124G>A	ENSP00000363779:p.Pro236Leu		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P236L	ENST00000374647.5	37	c.707	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420733	0.62622	.	.	ENSG00000070061	ENST00000374647	T	0.28069	1.63	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.331055	0.36740	N	0.002432	T	0.42743	0.1216	M	0.76328	2.33	0.80722	D	1	P	0.41475	0.751	B	0.44315	0.446	T	0.23547	-1.0185	10	0.33940	T	0.23	-4.1991	17.2636	0.87078	0.0:0.0:1.0:0.0	.	236	O95163	ELP1_HUMAN	L	236	ENSP00000363779:P236L	ENSP00000363779:P236L	P	-	2	0	IKBKAP	110720945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.026000	0.64103	2.659000	0.90383	0.655000	0.94253	CCT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.512	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0.00	55	0	G			111681124	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	A
IKBKAP	8518	genome.wustl.edu	37	9	111681124	111681124	+	Missense_Mutation	SNP	G	G	A	rs374008013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:111681124G>A	ENST00000374647.5	-	8	1014	c.707C>T	c.(706-708)cCt>cTt	p.P236L	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	236					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGCCACAGGCTCACTGGT	0.512																																																	0													101.0	104.0	103.0					9																	111681124		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.707C>T	9.37:g.111681124G>A	ENSP00000363779:p.Pro236Leu		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P236L	ENST00000374647.5	37	c.707	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420733	0.62622	.	.	ENSG00000070061	ENST00000374647	T	0.28069	1.63	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.331055	0.36740	N	0.002432	T	0.42743	0.1216	M	0.76328	2.33	0.80722	D	1	P	0.41475	0.751	B	0.44315	0.446	T	0.23547	-1.0185	10	0.33940	T	0.23	-4.1991	17.2636	0.87078	0.0:0.0:1.0:0.0	.	236	O95163	ELP1_HUMAN	L	236	ENSP00000363779:P236L	ENSP00000363779:P236L	P	-	2	0	IKBKAP	110720945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.026000	0.64103	2.659000	0.90383	0.655000	0.94253	CCT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.512	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0.00	66	0	G			111681124	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	A
IL13RA2	3598	genome.wustl.edu	37	X	114245244	114245244	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:114245244G>C	ENST00000371936.1	-	7	918	c.669C>G	c.(667-669)atC>atG	p.I223M	IL13RA2_ENST00000243213.1_Missense_Mutation_p.I223M			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	223	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AACTGGATCTGATAGGCTTGT	0.338																																																	0													127.0	119.0	122.0					X																	114245244		2203	4300	6503	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.669C>G	X.37:g.114245244G>C	ENSP00000361004:p.Ile223Met		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.I223M	ENST00000371936.1	37	c.669	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692674	0.48202	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.85258	-1.96;-1.96	5.15	3.28	0.37604	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.151370	0.48286	D	0.000198	D	0.89350	0.6690	M	0.85777	2.775	0.35083	D	0.763587	P;D	0.53745	0.945;0.962	P;P	0.57324	0.783;0.818	D	0.90890	0.4760	10	0.66056	D	0.02	-11.8635	5.6521	0.17622	0.1119:0.2129:0.6752:0.0	.	223;223	D0EFR8;Q14627	.;I13R2_HUMAN	M	223	ENSP00000361004:I223M;ENSP00000243213:I223M	ENSP00000243213:I223M	I	-	3	3	IL13RA2	114151500	0.817000	0.29147	0.975000	0.42487	0.761000	0.43186	0.395000	0.20850	1.140000	0.42260	0.544000	0.68410	ATC	IL13RA2	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000123496		0.338	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	-	0.00	34	0	G	NM_000640		114245244	-1	tier1	-	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	12.86	61	9	SNP	0.893	C
IL34	146433	genome.wustl.edu	37	16	70690565	70690565	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:70690565G>A	ENST00000288098.2	+	3	606	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	IL34_ENST00000429149.2_Missense_Mutation_p.A75T|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000566361.1_Missense_Mutation_p.A50T	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	75					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTTCAGAATCGCCAACGTCAC	0.587																																																	0													85.0	80.0	81.0					16																	70690565		2198	4300	6498	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.223G>A	16.37:g.70690565G>A	ENSP00000288098:p.Ala75Thr		B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_IL-34	p.A75T	ENST00000288098.2	37	c.223	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201714	0.38905	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.48836	0.8;0.8	5.46	4.5	0.54988	.	0.166921	0.41938	D	0.000796	T	0.50837	0.1639	L	0.33710	1.025	0.35536	D	0.802621	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.59852	-0.7376	10	0.42905	T	0.14	-28.9976	7.1944	0.25845	0.0866:0.0:0.7454:0.168	.	75;75	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	T	75	ENSP00000397863:A75T;ENSP00000288098:A75T	ENSP00000288098:A75T	A	+	1	0	IL34	69248066	0.989000	0.36119	0.819000	0.32651	0.624000	0.37722	2.059000	0.41384	1.301000	0.44836	0.511000	0.50034	GCC	IL34	-	prints_IL-34	ENSG00000157368		0.587	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0.00	52	0	G	NM_152456		70690565	+1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.821	A
INPP4A	3631	genome.wustl.edu	37	2	99172180	99172180	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:99172180G>T	ENST00000523221.1	+	15	1746	c.1746G>T	c.(1744-1746)tgG>tgT	p.W582C	INPP4A_ENST00000409851.3_Missense_Mutation_p.W577C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.W582C|INPP4A_ENST00000545415.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	582					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACGCCTACTGGATCAGACCAG	0.602																																																	0													94.0	109.0	104.0					2																	99172180		2186	4281	6467	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1746G>T	2.37:g.99172180G>T	ENSP00000427722:p.Trp582Cys		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.W582C	ENST00000523221.1	37	c.1746	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455582	0.63401	.	.	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	T;T;T	0.16897	2.31;2.31;2.31	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.28962	0.0719	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.01692	-1.1294	9	.	.	.	-11.736	18.308	0.90189	0.0:0.0:1.0:0.0	.	582;577	Q96PE3;Q96PE3-3	INP4A_HUMAN;.	C	577;582;582	ENSP00000386777:W577C;ENSP00000074304:W582C;ENSP00000427722:W582C	.	W	+	3	0	INPP4A	98538612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.813000	0.96785	0.655000	0.94253	TGG	INPP4A	-	NULL	ENSG00000040933		0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0.00	48	0	G	NM_001566		99172180	+1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	T
INPP4A	3631	genome.wustl.edu	37	2	99172180	99172180	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:99172180G>T	ENST00000523221.1	+	15	1746	c.1746G>T	c.(1744-1746)tgG>tgT	p.W582C	INPP4A_ENST00000409851.3_Missense_Mutation_p.W577C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.W582C|INPP4A_ENST00000545415.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	582					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACGCCTACTGGATCAGACCAG	0.602																																																	0													94.0	109.0	104.0					2																	99172180		2186	4281	6467	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1746G>T	2.37:g.99172180G>T	ENSP00000427722:p.Trp582Cys		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.W582C	ENST00000523221.1	37	c.1746	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455582	0.63401	.	.	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	T;T;T	0.16897	2.31;2.31;2.31	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.28962	0.0719	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.01692	-1.1294	9	.	.	.	-11.736	18.308	0.90189	0.0:0.0:1.0:0.0	.	582;577	Q96PE3;Q96PE3-3	INP4A_HUMAN;.	C	577;582;582	ENSP00000386777:W577C;ENSP00000074304:W582C;ENSP00000427722:W582C	.	W	+	3	0	INPP4A	98538612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.813000	0.96785	0.655000	0.94253	TGG	INPP4A	-	NULL	ENSG00000040933		0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0.00	56	0	G	NM_001566		99172180	+1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	T
INTS10	55174	genome.wustl.edu	37	8	19687983	19687983	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:19687983C>T	ENST00000397977.3	+	10	1605	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	403					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAAGCCGAACTTGCTAACTC	0.423																																																	0													121.0	111.0	114.0					8																	19687983		1885	4118	6003	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1207C>T	8.37:g.19687983C>T	ENSP00000381064:p.Leu403Phe		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.L403F	ENST00000397977.3	37	c.1207	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972212	0.74246	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.96	5.96	0.96718	.	0.108809	0.64402	D	0.000006	T	0.61527	0.2354	L	0.29908	0.895	0.48236	D	0.999611	D	0.54047	0.964	P	0.54210	0.745	T	0.61589	-0.7032	9	0.54805	T	0.06	-20.2719	18.9858	0.92769	0.0:1.0:0.0:0.0	.	403	Q9NVR2	INT10_HUMAN	F	403	.	ENSP00000381064:L403F	L	+	1	0	INTS10	19732263	1.000000	0.71417	0.140000	0.22221	0.877000	0.50540	5.695000	0.68279	2.832000	0.97577	0.655000	0.94253	CTT	INTS10	-	NULL	ENSG00000104613		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0.00	74	0	C	NM_018142		19687983	+1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.940	T
INTS10	55174	genome.wustl.edu	37	8	19687983	19687983	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:19687983C>T	ENST00000397977.3	+	10	1605	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	403					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAAGCCGAACTTGCTAACTC	0.423																																																	0													121.0	111.0	114.0					8																	19687983		1885	4118	6003	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1207C>T	8.37:g.19687983C>T	ENSP00000381064:p.Leu403Phe		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.L403F	ENST00000397977.3	37	c.1207	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972212	0.74246	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.96	5.96	0.96718	.	0.108809	0.64402	D	0.000006	T	0.61527	0.2354	L	0.29908	0.895	0.48236	D	0.999611	D	0.54047	0.964	P	0.54210	0.745	T	0.61589	-0.7032	9	0.54805	T	0.06	-20.2719	18.9858	0.92769	0.0:1.0:0.0:0.0	.	403	Q9NVR2	INT10_HUMAN	F	403	.	ENSP00000381064:L403F	L	+	1	0	INTS10	19732263	1.000000	0.71417	0.140000	0.22221	0.877000	0.50540	5.695000	0.68279	2.832000	0.97577	0.655000	0.94253	CTT	INTS10	-	NULL	ENSG00000104613		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0.00	77	0	C	NM_018142		19687983	+1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.940	T
INTS8	55656	genome.wustl.edu	37	8	95850822	95850822	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:95850822T>G	ENST00000523731.1	+	8	1126	c.993T>G	c.(991-993)atT>atG	p.I331M	INTS8_ENST00000447247.1_Missense_Mutation_p.I331M	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	331					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGTCCATATTTGTTTGAGAT	0.418																																																	0													171.0	153.0	159.0					8																	95850822		2203	4300	6503	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.993T>G	8.37:g.95850822T>G	ENSP00000430338:p.Ile331Met		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.I331M	ENST00000523731.1	37	c.993	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.049991|2.049991	0.36181|0.36181	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.42|5.42	1.86|1.86	0.25419|0.25419	.|.	.|0.327504	.|0.38381	.|N	.|0.001708	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.26856|0.26856	N|N	0.968056|0.968056	.|B;B	.|0.27791	.|0.114;0.189	.|B;B	.|0.31337	.|0.128;0.052	T|T	0.15009|0.15009	-1.0452|-1.0452	5|9	.|0.44086	.|T	.|0.13	-18.0105|-18.0105	7.1876|7.1876	0.25809|0.25809	0.0:0.3242:0.0:0.6758|0.0:0.3242:0.0:0.6758	.|.	.|331;331	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	C|M	153|331	.|.	.|ENSP00000343274:I331M	F|I	+|+	2|3	0|3	INTS8|INTS8	95919998|95919998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	1.304000|1.304000	0.33482|0.33482	0.888000|0.888000	0.36160|0.36160	0.402000|0.402000	0.26972|0.26972	TTT|ATT	INTS8	-	NULL	ENSG00000164941		0.418	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	-	0.00	41	0	T	NM_017864		95850822	+1	tier1	-	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G
INTS8	55656	genome.wustl.edu	37	8	95850822	95850822	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:95850822T>G	ENST00000523731.1	+	8	1126	c.993T>G	c.(991-993)atT>atG	p.I331M	INTS8_ENST00000447247.1_Missense_Mutation_p.I331M	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	331					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGTCCATATTTGTTTGAGAT	0.418																																																	0													171.0	153.0	159.0					8																	95850822		2203	4300	6503	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.993T>G	8.37:g.95850822T>G	ENSP00000430338:p.Ile331Met		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.I331M	ENST00000523731.1	37	c.993	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.049991|2.049991	0.36181|0.36181	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.42|5.42	1.86|1.86	0.25419|0.25419	.|.	.|0.327504	.|0.38381	.|N	.|0.001708	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.26856|0.26856	N|N	0.968056|0.968056	.|B;B	.|0.27791	.|0.114;0.189	.|B;B	.|0.31337	.|0.128;0.052	T|T	0.15009|0.15009	-1.0452|-1.0452	5|9	.|0.44086	.|T	.|0.13	-18.0105|-18.0105	7.1876|7.1876	0.25809|0.25809	0.0:0.3242:0.0:0.6758|0.0:0.3242:0.0:0.6758	.|.	.|331;331	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	C|M	153|331	.|.	.|ENSP00000343274:I331M	F|I	+|+	2|3	0|3	INTS8|INTS8	95919998|95919998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	1.304000|1.304000	0.33482|0.33482	0.888000|0.888000	0.36160|0.36160	0.402000|0.402000	0.26972|0.26972	TTT|ATT	INTS8	-	NULL	ENSG00000164941		0.418	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	-	0.00	44	0	T	NM_017864		95850822	+1	tier1	-	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G
IQGAP1	8826	genome.wustl.edu	37	15	91034730	91034730	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:91034730G>A	ENST00000268182.5	+	34	4538	c.4414G>A	c.(4414-4416)Gtg>Atg	p.V1472M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V900M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1472	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTGGAACCGTGGACCCAAA	0.473																																																	0													113.0	103.0	106.0					15																	91034730		2198	4298	6496	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4414G>A	15.37:g.91034730G>A	ENSP00000268182:p.Val1472Met		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.V1472M	ENST00000268182.5	37	c.4414	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433498	0.83776	.	.	ENSG00000140575	ENST00000268182	T	0.50813	0.73	6.08	5.16	0.70880	RasGAP protein, C-terminal (1);	0.066594	0.64402	D	0.000011	T	0.61640	0.2363	M	0.83223	2.63	0.80722	D	1	P;P	0.52577	0.921;0.954	B;P	0.50192	0.36;0.634	T	0.69580	-0.5107	10	0.87932	D	0	-17.6264	14.2327	0.65903	0.0708:0.0:0.9292:0.0	.	93;1472	B4DNP4;P46940	.;IQGA1_HUMAN	M	1472	ENSP00000268182:V1472M	ENSP00000268182:V1472M	V	+	1	0	IQGAP1	88835734	1.000000	0.71417	0.925000	0.36789	0.990000	0.78478	5.561000	0.67339	1.579000	0.49836	0.655000	0.94253	GTG	IQGAP1	-	pfam_RasGAP_C	ENSG00000140575		0.473	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	-	0.00	52	0	G	NM_003870		91034730	+1	tier1	-	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.996	A
IQGAP1	8826	genome.wustl.edu	37	15	91034730	91034730	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:91034730G>A	ENST00000268182.5	+	34	4538	c.4414G>A	c.(4414-4416)Gtg>Atg	p.V1472M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V900M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1472	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTGGAACCGTGGACCCAAA	0.473																																																	0													113.0	103.0	106.0					15																	91034730		2198	4298	6496	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4414G>A	15.37:g.91034730G>A	ENSP00000268182:p.Val1472Met		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.V1472M	ENST00000268182.5	37	c.4414	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433498	0.83776	.	.	ENSG00000140575	ENST00000268182	T	0.50813	0.73	6.08	5.16	0.70880	RasGAP protein, C-terminal (1);	0.066594	0.64402	D	0.000011	T	0.61640	0.2363	M	0.83223	2.63	0.80722	D	1	P;P	0.52577	0.921;0.954	B;P	0.50192	0.36;0.634	T	0.69580	-0.5107	10	0.87932	D	0	-17.6264	14.2327	0.65903	0.0708:0.0:0.9292:0.0	.	93;1472	B4DNP4;P46940	.;IQGA1_HUMAN	M	1472	ENSP00000268182:V1472M	ENSP00000268182:V1472M	V	+	1	0	IQGAP1	88835734	1.000000	0.71417	0.925000	0.36789	0.990000	0.78478	5.561000	0.67339	1.579000	0.49836	0.655000	0.94253	GTG	IQGAP1	-	pfam_RasGAP_C	ENSG00000140575		0.473	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	-	0.00	65	0	G	NM_003870		91034730	+1	tier1	-	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.996	A
ITPR1	3708	genome.wustl.edu	37	3	4712438	4712438	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:4712438G>C	ENST00000443694.2	+	17	1987	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	ITPR1_ENST00000354582.6_Missense_Mutation_p.E678Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E678Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.E663Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E678Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E663Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	678					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTTGAATTTGAAGGTGTCTC	0.418																																																	0													74.0	64.0	67.0					3																	4712438		1864	4111	5975	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1987G>C	3.37:g.4712438G>C	ENSP00000401671:p.Glu663Gln		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E663Q	ENST00000443694.2	37	c.1987	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967207	0.34754	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.81;-2.83;-2.83	5.1	5.1	0.69264	.	0.099031	0.64402	D	0.000002	T	0.82107	0.4965	N	0.08118	0	0.80722	D	1	B;B;B	0.18166	0.0;0.026;0.004	B;B;B	0.22601	0.004;0.04;0.015	T	0.76589	-0.2904	10	0.20519	T	0.43	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	663;678;678	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	678;663;678;678;678;663;663	ENSP00000306253:E663Q;ENSP00000346595:E678Q;ENSP00000405934:E678Q;ENSP00000349597:E678Q;ENSP00000397885:E663Q;ENSP00000401671:E663Q	ENSP00000306253:E663Q	E	+	1	0	ITPR1	4687438	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.856000	0.86956	2.368000	0.80403	0.655000	0.94253	GAA	ITPR1	-	NULL	ENSG00000150995		0.418	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	106	0	G	NM_002222		4712438	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	C
ITPR1	3708	genome.wustl.edu	37	3	4712438	4712438	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:4712438G>C	ENST00000443694.2	+	17	1987	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	ITPR1_ENST00000354582.6_Missense_Mutation_p.E678Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E678Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.E663Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E678Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E663Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	678					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTTGAATTTGAAGGTGTCTC	0.418																																																	0													74.0	64.0	67.0					3																	4712438		1864	4111	5975	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1987G>C	3.37:g.4712438G>C	ENSP00000401671:p.Glu663Gln		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E663Q	ENST00000443694.2	37	c.1987	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967207	0.34754	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.81;-2.83;-2.83	5.1	5.1	0.69264	.	0.099031	0.64402	D	0.000002	T	0.82107	0.4965	N	0.08118	0	0.80722	D	1	B;B;B	0.18166	0.0;0.026;0.004	B;B;B	0.22601	0.004;0.04;0.015	T	0.76589	-0.2904	10	0.20519	T	0.43	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	663;678;678	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	678;663;678;678;678;663;663	ENSP00000306253:E663Q;ENSP00000346595:E678Q;ENSP00000405934:E678Q;ENSP00000349597:E678Q;ENSP00000397885:E663Q;ENSP00000401671:E663Q	ENSP00000306253:E663Q	E	+	1	0	ITPR1	4687438	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.856000	0.86956	2.368000	0.80403	0.655000	0.94253	GAA	ITPR1	-	NULL	ENSG00000150995		0.418	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	111	0	G	NM_002222		4712438	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	C
IVL	3713	genome.wustl.edu	37	1	152883117	152883117	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:152883117C>A	ENST00000368764.3	+	2	908	c.844C>A	c.(844-846)Cag>Aag	p.Q282K	IVL_ENST00000392667.2_Missense_Mutation_p.Q136K			P07476	INVO_HUMAN	involucrin	282	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGATGGGGCAGCTGAAGTA	0.637																																																	0													17.0	16.0	17.0					1																	152883117		2047	4020	6067	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.844C>A	1.37:g.152883117C>A	ENSP00000357753:p.Gln282Lys		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q282K	ENST00000368764.3	37	c.844	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577149	0.00887	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.12;2.86	2.28	-1.2	0.09554	.	.	.	.	.	T	0.02688	0.0081	L	0.53249	1.67	0.09310	N	1	B	0.17465	0.022	B	0.27170	0.077	T	0.49041	-0.8980	9	0.07030	T	0.85	.	9.348	0.38120	0.2908:0.7092:0.0:0.0	.	282	P07476	INVO_HUMAN	K	282;136	ENSP00000357753:Q282K;ENSP00000376435:Q136K	ENSP00000357753:Q282K	Q	+	1	0	IVL	151149741	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.067000	0.14510	-0.498000	0.06632	0.194000	0.17425	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0.00	201	0	C	NM_005547		152883117	+1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	32.04	122	58	SNP	0.000	A
JPH4	84502	genome.wustl.edu	37	14	24041055	24041055	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:24041055G>T	ENST00000397118.3	-	5	2128	c.1226C>A	c.(1225-1227)gCc>gAc	p.A409D	JPH4_ENST00000544177.1_Missense_Mutation_p.A74D|JPH4_ENST00000356300.4_Missense_Mutation_p.A409D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	409					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TATCAGTTTGGCCATTCGAGC	0.637																																																	0													83.0	76.0	78.0					14																	24041055		2203	4300	6503	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1226C>A	14.37:g.24041055G>T	ENSP00000380307:p.Ala409Asp		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A409D	ENST00000397118.3	37	c.1226	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445213	0.83993	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.79141	-1.24;-1.24;-0.3	5.24	5.24	0.73138	.	0.000000	0.29964	U	0.010741	D	0.86003	0.5829	M	0.71581	2.175	0.47659	D	0.999488	D;D	0.76494	0.999;0.994	D;P	0.76575	0.988;0.663	D	0.86877	0.2039	10	0.87932	D	0	.	11.7226	0.51691	0.0:0.0:0.8235:0.1765	.	74;409	F5H1L9;Q96JJ6	.;JPH4_HUMAN	D	409;409;409;410;74	ENSP00000348648:A409D;ENSP00000380307:A409D;ENSP00000439562:A74D	ENSP00000267407:A410D	A	-	2	0	JPH4	23110895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.291000	0.65667	2.612000	0.88384	0.561000	0.74099	GCC	JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.637	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1		0.00	80	0	G	NM_032452		24041055	-1			no_errors	ENST00000356300	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T
KANK4	163782	genome.wustl.edu	37	1	62718879	62718879	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:62718879C>T	ENST00000371153.4	-	8	2920	c.2542G>A	c.(2542-2544)Gtc>Atc	p.V848I	KANK4_ENST00000354381.3_Missense_Mutation_p.V220I|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Missense_Mutation_p.V204I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	848						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACATTGCAGACGCCTGCAAGA	0.532																																																	0													93.0	90.0	91.0					1																	62718879		2203	4300	6503	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2542G>A	1.37:g.62718879C>T	ENSP00000360195:p.Val848Ile		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V848I	ENST00000371153.4	37	c.2542	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411316	0.62399	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.51325	0.71;0.73;0.75	4.98	3.07	0.35406	Ankyrin repeat-containing domain (4);	0.241892	0.21542	N	0.072870	T	0.41096	0.1144	N	0.20357	0.565	0.37698	D	0.924111	D;P	0.63880	0.993;0.948	P;P	0.51833	0.637;0.681	T	0.44802	-0.9304	10	0.56958	D	0.05	-16.4371	10.2222	0.43203	0.0:0.7895:0.1367:0.0739	.	220;848	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	I	848;220;204	ENSP00000360195:V848I;ENSP00000346352:V220I;ENSP00000360192:V204I	ENSP00000346352:V220I	V	-	1	0	KANK4	62491467	0.017000	0.18338	0.804000	0.32291	0.646000	0.38490	0.296000	0.19083	0.673000	0.31224	-0.136000	0.14681	GTC	KANK4	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132854		0.532	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0.00	52	0	C	NM_181712		62718879	-1	tier1	-	no_errors	ENST00000371153	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.930	T
KATNB1	10300	genome.wustl.edu	37	16	57785554	57785554	+	Splice_Site	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:57785554G>T	ENST00000379661.3	+	7	826	c.434G>T	c.(433-435)gGg>gTg	p.G145V		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTCCCTCAGGGGCACAGCCAG	0.647																																																	0													58.0	54.0	56.0					16																	57785554		2198	4300	6498	SO:0001630	splice_region_variant	0			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.433-1G>T	16.37:g.57785554G>T				Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G145V	ENST00000379661.3	37	c.434	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020012	0.93462	.	.	ENSG00000140854	ENST00000379661	T	0.70516	-0.49	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.107668	0.64402	D	0.000006	D	0.84611	0.5510	M	0.86343	2.81	0.80722	D	1	D	0.58620	0.983	P	0.60609	0.877	D	0.88089	0.2812	10	0.87932	D	0	-11.9869	16.8582	0.86011	0.0:0.0:1.0:0.0	.	145	Q9BVA0	KTNB1_HUMAN	V	145	ENSP00000368982:G145V	ENSP00000368982:G145V	G	+	2	0	KATNB1	56343055	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	9.397000	0.97276	2.202000	0.70862	0.561000	0.74099	GGG	KATNB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140854		0.647	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3		0.00	59	0	G		Missense_Mutation	57785554	+1			no_errors	ENST00000379661	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
KAZN	23254	genome.wustl.edu	37	1	15370554	15370554	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:15370554C>T	ENST00000376030.2	+	4	919	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	KAZN_ENST00000361144.5_Missense_Mutation_p.R203W|KAZN_ENST00000400798.2_Missense_Mutation_p.R115W|KAZN_ENST00000422387.2_Missense_Mutation_p.R209W|KAZN_ENST00000400797.3_Missense_Mutation_p.R115W|KAZN_ENST00000503743.1_Missense_Mutation_p.R209W	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	209	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GTGGGAGCTGCGGCGCCAAGC	0.657																																																	0													73.0	60.0	64.0					1																	15370554		2202	4300	6502	SO:0001583	missense	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.625C>T	1.37:g.15370554C>T	ENSP00000365198:p.Arg209Trp		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R209W	ENST00000376030.2	37	c.625	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471032	0.84533	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.79033	0.68;0.68;0.68;0.68;-1.23;-1.23;-1.23	5.57	4.65	0.58169	.	0.057408	0.64402	D	0.000002	D	0.86024	0.5834	M	0.62723	1.935	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.978;0.978;0.985;0.998	D	0.87203	0.2242	10	0.66056	D	0.02	-32.2369	14.7811	0.69769	0.1455:0.8545:0.0:0.0	.	209;115;203;209	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	W	209;209;209;203;115;115;115	ENSP00000365198:R209W;ENSP00000426015:R209W;ENSP00000391728:R209W;ENSP00000354727:R203W;ENSP00000365196:R115W;ENSP00000383602:R115W;ENSP00000383601:R115W	ENSP00000354727:R203W	R	+	1	2	KAZN	15243141	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.009000	0.29886	1.316000	0.45131	0.563000	0.77884	CGG	KAZN	-	NULL	ENSG00000189337		0.657	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	-	0.00	53	0	C	NM_001017999		15370554	+1	tier1	-	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
KAZN	23254	genome.wustl.edu	37	1	15370554	15370554	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:15370554C>T	ENST00000376030.2	+	4	919	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	KAZN_ENST00000361144.5_Missense_Mutation_p.R203W|KAZN_ENST00000400798.2_Missense_Mutation_p.R115W|KAZN_ENST00000422387.2_Missense_Mutation_p.R209W|KAZN_ENST00000400797.3_Missense_Mutation_p.R115W|KAZN_ENST00000503743.1_Missense_Mutation_p.R209W	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	209	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GTGGGAGCTGCGGCGCCAAGC	0.657																																																	0													73.0	60.0	64.0					1																	15370554		2202	4300	6502	SO:0001583	missense	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.625C>T	1.37:g.15370554C>T	ENSP00000365198:p.Arg209Trp		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R209W	ENST00000376030.2	37	c.625	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471032	0.84533	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.79033	0.68;0.68;0.68;0.68;-1.23;-1.23;-1.23	5.57	4.65	0.58169	.	0.057408	0.64402	D	0.000002	D	0.86024	0.5834	M	0.62723	1.935	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.978;0.978;0.985;0.998	D	0.87203	0.2242	10	0.66056	D	0.02	-32.2369	14.7811	0.69769	0.1455:0.8545:0.0:0.0	.	209;115;203;209	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	W	209;209;209;203;115;115;115	ENSP00000365198:R209W;ENSP00000426015:R209W;ENSP00000391728:R209W;ENSP00000354727:R203W;ENSP00000365196:R115W;ENSP00000383602:R115W;ENSP00000383601:R115W	ENSP00000354727:R203W	R	+	1	2	KAZN	15243141	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.009000	0.29886	1.316000	0.45131	0.563000	0.77884	CGG	KAZN	-	NULL	ENSG00000189337		0.657	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	-	0.00	62	0	C	NM_001017999		15370554	+1	tier1	-	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
KCNA6	3742	genome.wustl.edu	37	12	4919722	4919722	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:4919722C>T	ENST00000280684.3	+	1	1381	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.P172L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	172					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AGCTCTGGGCCGGCCAGGGGC	0.617										HNSCC(72;0.22)																																							0													45.0	44.0	44.0					12																	4919722		2203	4300	6503	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.515C>T	12.37:g.4919722C>T	ENSP00000280684:p.Pro172Leu			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.P172L	ENST00000280684.3	37	c.515	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972656	0.53614	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.68331	-0.32;-0.32	4.99	4.99	0.66335	.	0.115857	0.64402	D	0.000013	T	0.55401	0.1918	L	0.31420	0.93	0.80722	D	1	B	0.29301	0.241	B	0.19946	0.027	T	0.56300	-0.8002	10	0.48119	T	0.1	.	17.4425	0.87568	0.0:1.0:0.0:0.0	.	172	P17658	KCNA6_HUMAN	L	172	ENSP00000408321:P172L;ENSP00000280684:P172L	ENSP00000280684:P172L	P	+	2	0	KCNA6	4789983	1.000000	0.71417	0.906000	0.35671	0.904000	0.53231	7.646000	0.83445	2.595000	0.87683	0.563000	0.77884	CCG	KCNA6	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	63	0	C	NM_002235		4919722	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.994	T
KCNA6	3742	genome.wustl.edu	37	12	4920698	4920698	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:4920698C>T	ENST00000280684.3	+	1	2357	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G497G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	497					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACGGACTTGGCAAGCCTGACT	0.602										HNSCC(72;0.22)																																							0													87.0	88.0	88.0					12																	4920698		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1491C>T	12.37:g.4920698C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G497	ENST00000280684.3	37	c.1491	CCDS8534.1	12																																																																																			KCNA6	-	NULL	ENSG00000151079		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	41	0	C	NM_002235		4920698	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T
KCNA6	3742	genome.wustl.edu	37	12	4920698	4920698	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:4920698C>T	ENST00000280684.3	+	1	2357	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G497G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	497					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACGGACTTGGCAAGCCTGACT	0.602										HNSCC(72;0.22)																																							0													87.0	88.0	88.0					12																	4920698		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1491C>T	12.37:g.4920698C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G497	ENST00000280684.3	37	c.1491	CCDS8534.1	12																																																																																			KCNA6	-	NULL	ENSG00000151079		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	54	0	C	NM_002235		4920698	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.997	T
KCNH1	3756	genome.wustl.edu	37	1	210948725	210948725	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:210948725G>A	ENST00000271751.4	-	10	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	KCNH1_ENST00000367007.4_Missense_Mutation_p.R666W			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	693	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCAGGTTCCGGGAGAAGGAA	0.463																																																	0													89.0	83.0	85.0					1																	210948725		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2077C>T	1.37:g.210948725G>A	ENSP00000271751:p.Arg693Trp		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R693W	ENST00000271751.4	37	c.2077	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783167	0.70222	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96992	-4.2;-4.2	5.36	0.703	0.18116	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.098306	0.64402	D	0.000003	D	0.97393	0.9147	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.955;0.959	D	0.96857	0.9629	10	0.62326	D	0.03	.	14.9061	0.70721	0.0:0.0:0.228:0.772	.	666;693	Q14CL3;O95259	.;KCNH1_HUMAN	W	693;666	ENSP00000271751:R693W;ENSP00000355974:R666W	ENSP00000271751:R693W	R	-	1	2	KCNH1	209015348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.831000	0.39141	0.205000	0.20568	0.555000	0.69702	CGG	KCNH1	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0.00	78	0	G	NM_002238		210948725	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A
KCNH1	3756	genome.wustl.edu	37	1	210948725	210948725	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:210948725G>A	ENST00000271751.4	-	10	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	KCNH1_ENST00000367007.4_Missense_Mutation_p.R666W			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	693	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCAGGTTCCGGGAGAAGGAA	0.463																																																	0													89.0	83.0	85.0					1																	210948725		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2077C>T	1.37:g.210948725G>A	ENSP00000271751:p.Arg693Trp		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R693W	ENST00000271751.4	37	c.2077	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783167	0.70222	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96992	-4.2;-4.2	5.36	0.703	0.18116	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.098306	0.64402	D	0.000003	D	0.97393	0.9147	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.955;0.959	D	0.96857	0.9629	10	0.62326	D	0.03	.	14.9061	0.70721	0.0:0.0:0.228:0.772	.	666;693	Q14CL3;O95259	.;KCNH1_HUMAN	W	693;666	ENSP00000271751:R693W;ENSP00000355974:R666W	ENSP00000271751:R693W	R	-	1	2	KCNH1	209015348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.831000	0.39141	0.205000	0.20568	0.555000	0.69702	CGG	KCNH1	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0.00	84	0	G	NM_002238		210948725	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A
KCNJ12	3768	genome.wustl.edu	37	17	21319079	21319079	+	Missense_Mutation	SNP	C	C	A	rs76518282	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:21319079C>A	ENST00000583088.1	+	3	1320	c.425C>A	c.(424-426)aCc>aAc	p.T142N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	142				T -> N (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGACGCAGACCACCATCGGC	0.662										Prostate(3;0.18)																																							0													47.0	45.0	46.0					17																	21319079		2202	4300	6502	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.425C>A	17.37:g.21319079C>A	ENSP00000463778:p.Thr142Asn		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.T142N	ENST00000583088.1	37	c.425	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380515	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.97352	-4.35	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.054946	0.64402	D	0.000001	D	0.98909	0.9630	H	0.95780	3.72	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	D	0.99320	1.0906	10	0.54805	T	0.06	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	142	Q14500	IRK12_HUMAN	N	142	ENSP00000328150:T142N	ENSP00000328150:T142N	T	+	2	0	KCNJ12	21259672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.680000	0.84062	2.448000	0.82819	0.591000	0.81541	ACC	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000184185		0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0.00	39	0	C	NM_021012		21319079	+1	tier1	rs76518282	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36780046	36780046	+	Nonsense_Mutation	SNP	G	G	T	rs368253838		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:36780046G>T	ENST00000399881.3	+	24	2672	c.2635G>T	c.(2635-2637)Gga>Tga	p.G879*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	879					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAGCTTGGTGGACTGGAAGG	0.458																																																	0													138.0	135.0	136.0					8																	36780046		1916	4128	6044	SO:0001587	stop_gained	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2635G>T	8.37:g.36780046G>T	ENSP00000382770:p.Gly879*			Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.G879*	ENST00000399881.3	37	c.2635	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.961023	0.97151	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.32	5.32	0.75619	.	0.197750	0.24022	U	0.042263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5738	11.6234	0.51132	0.0:0.0:0.8226:0.1774	.	.	.	.	X	879	.	ENSP00000382770:G879X	G	+	1	0	KCNU1	36899204	0.980000	0.34600	0.913000	0.36048	0.387000	0.30353	0.844000	0.27654	2.485000	0.83878	0.655000	0.94253	GGA	KCNU1	-	NULL	ENSG00000215262		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0.00	88	0	G	NM_001031836		36780046	+1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	nonsense	11.24	79	10	SNP	0.687	T
KCNV1	27012	genome.wustl.edu	37	8	110986334	110986334	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:110986334T>C	ENST00000524391.1	-	2	1316	c.284A>G	c.(283-285)aAc>aGc	p.N95S	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.N95S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	95					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTCCACGGGGTTGGCATCGTC	0.672																																																	0													39.0	33.0	35.0					8																	110986334		2203	4299	6502	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.284A>G	8.37:g.110986334T>C	ENSP00000435954:p.Asn95Ser		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.N95S	ENST00000524391.1	37	c.284	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	T	6.877	0.531264	0.13127	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.76316	-1.01;-1.01	4.85	4.85	0.62838	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052243	0.85682	D	0.000000	T	0.60830	0.2299	N	0.16266	0.395	0.44798	D	0.997806	B	0.34372	0.451	B	0.33042	0.157	T	0.59537	-0.7436	10	0.11485	T	0.65	.	13.7692	0.63015	0.0:0.0:0.0:1.0	.	95	Q6PIU1	KCNV1_HUMAN	S	95	ENSP00000435954:N95S;ENSP00000297404:N95S	ENSP00000297404:N95S	N	-	2	0	KCNV1	111055510	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	7.849000	0.86908	2.020000	0.59435	0.533000	0.62120	AAC	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.672	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	142	0	T	NM_014379		110986334	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	17.32	104	22	SNP	1.000	C
KCNV1	27012	genome.wustl.edu	37	8	110986334	110986334	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:110986334T>C	ENST00000524391.1	-	2	1316	c.284A>G	c.(283-285)aAc>aGc	p.N95S	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.N95S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	95					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTCCACGGGGTTGGCATCGTC	0.672																																																	0													39.0	33.0	35.0					8																	110986334		2203	4299	6502	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.284A>G	8.37:g.110986334T>C	ENSP00000435954:p.Asn95Ser		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.N95S	ENST00000524391.1	37	c.284	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	T	6.877	0.531264	0.13127	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.76316	-1.01;-1.01	4.85	4.85	0.62838	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052243	0.85682	D	0.000000	T	0.60830	0.2299	N	0.16266	0.395	0.44798	D	0.997806	B	0.34372	0.451	B	0.33042	0.157	T	0.59537	-0.7436	10	0.11485	T	0.65	.	13.7692	0.63015	0.0:0.0:0.0:1.0	.	95	Q6PIU1	KCNV1_HUMAN	S	95	ENSP00000435954:N95S;ENSP00000297404:N95S	ENSP00000297404:N95S	N	-	2	0	KCNV1	111055510	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	7.849000	0.86908	2.020000	0.59435	0.533000	0.62120	AAC	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.672	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	166	0	T	NM_014379		110986334	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	17.32	104	22	SNP	1.000	C
KCTD17	79734	genome.wustl.edu	37	22	37457163	37457163	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:37457163C>T	ENST00000403888.3	+	7	754	c.753C>T	c.(751-753)ccC>ccT	p.P251P	KCTD17_ENST00000402077.3_Intron	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	251					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CTCAGGATCCCGCTAAccttt	0.592																																																	0																																										SO:0001819	synonymous_variant	0			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.753C>T	22.37:g.37457163C>T			B0QYA9|B0QYB0|O95517	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.P251	ENST00000403888.3	37	c.753		22																																																																																			KCTD17	-	NULL	ENSG00000100379		0.592	KCTD17-002	KNOWN	basic	protein_coding	KCTD17	HGNC	protein_coding	OTTHUMT00000318781.1	-	0.00	37	0	C	NM_024681		37457163	+1	tier1	-	no_errors	ENST00000403888	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.999	T
KDM5B	10765	genome.wustl.edu	37	1	202710527	202710527	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:202710527C>G	ENST00000367265.3	-	19	4077	c.2913G>C	c.(2911-2913)tgG>tgC	p.W971C	KDM5B_ENST00000367264.2_Missense_Mutation_p.W1007C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	971					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTTTGTCGTCCCAGTGCTCTG	0.527																																																	0													50.0	52.0	51.0					1																	202710527		2203	4300	6503	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2913G>C	1.37:g.202710527C>G	ENSP00000356234:p.Trp971Cys		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.W1007C	ENST00000367265.3	37	c.3021	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638708	0.87760	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.64803	-0.12;-0.12;-0.12	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.957;0.995	T	0.82631	-0.0362	10	0.87932	D	0	-14.4901	20.3789	0.98926	0.0:1.0:0.0:0.0	.	1007;971	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	971;813;1007;813	ENSP00000356234:W971C;ENSP00000356233:W1007C;ENSP00000235790:W813C	ENSP00000235790:W813C	W	-	3	0	KDM5B	200977150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.826000	0.97356	0.563000	0.77884	TGG	KDM5B	-	pfam_Lys_sp_deMease_like_dom	ENSG00000117139		0.527	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	-	0.00	79	0	C	NM_006618		202710527	-1	tier1	-	no_errors	ENST00000367264	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	G
KDM5B	10765	genome.wustl.edu	37	1	202710527	202710527	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:202710527C>G	ENST00000367265.3	-	19	4077	c.2913G>C	c.(2911-2913)tgG>tgC	p.W971C	KDM5B_ENST00000367264.2_Missense_Mutation_p.W1007C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	971					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTTTGTCGTCCCAGTGCTCTG	0.527																																																	0													50.0	52.0	51.0					1																	202710527		2203	4300	6503	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2913G>C	1.37:g.202710527C>G	ENSP00000356234:p.Trp971Cys		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.W1007C	ENST00000367265.3	37	c.3021	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638708	0.87760	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.64803	-0.12;-0.12;-0.12	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.957;0.995	T	0.82631	-0.0362	10	0.87932	D	0	-14.4901	20.3789	0.98926	0.0:1.0:0.0:0.0	.	1007;971	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	971;813;1007;813	ENSP00000356234:W971C;ENSP00000356233:W1007C;ENSP00000235790:W813C	ENSP00000235790:W813C	W	-	3	0	KDM5B	200977150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.826000	0.97356	0.563000	0.77884	TGG	KDM5B	-	pfam_Lys_sp_deMease_like_dom	ENSG00000117139		0.527	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	-	0.00	91	0	C	NM_006618		202710527	-1	tier1	-	no_errors	ENST00000367264	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	G
KHDRBS2	202559	genome.wustl.edu	37	6	62995779	62995779	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:62995779C>T	ENST00000281156.4	-	1	353	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567																																																	0													114.0	87.0	97.0					6																	62995779		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.75G>A	6.37:g.62995779C>T			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.S25	ENST00000281156.4	37	c.75	CCDS4963.1	6																																																																																			KHDRBS2	-	NULL	ENSG00000112232		0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0.00	37	0	C	NM_152688		62995779	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	silent	12.07	50	7	SNP	0.999	T
KHDRBS2	202559	genome.wustl.edu	37	6	62995779	62995779	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:62995779C>T	ENST00000281156.4	-	1	353	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567																																																	0													114.0	87.0	97.0					6																	62995779		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.75G>A	6.37:g.62995779C>T			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.S25	ENST00000281156.4	37	c.75	CCDS4963.1	6																																																																																			KHDRBS2	-	NULL	ENSG00000112232		0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0.00	55	0	C	NM_152688		62995779	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	silent	12.07	50	7	SNP	0.999	T
KIF1B	23095	genome.wustl.edu	37	1	10364491	10364491	+	Intron	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:10364491A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D1083V|KIF1B_ENST00000377093.4_Missense_Mutation_p.D1083V|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCACTGCTGATGTACAGACT	0.502																																																	0													87.0	84.0	85.0					1																	10364491		2203	4300	6503	SO:0001627	intron_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7187A>T	1.37:g.10364491A>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1083V	ENST00000377086.1	37	c.3248		1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186973	0.38609	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74737	-0.87;-0.87	5.72	5.72	0.89469	.	.	.	.	.	T	0.78861	0.4350	.	.	.	0.80722	D	1	P	0.39250	0.665	P	0.46208	0.507	T	0.80903	-0.1174	8	0.72032	D	0.01	.	16.0204	0.80478	1.0:0.0:0.0:0.0	.	1083	O60333-3	.	V	1083	ENSP00000366297:D1083V;ENSP00000366287:D1083V	ENSP00000366287:D1083V	D	+	2	0	KIF1B	10287078	1.000000	0.71417	0.806000	0.32338	0.985000	0.73830	5.156000	0.64905	2.174000	0.68829	0.533000	0.62120	GAT	KIF1B	-	NULL	ENSG00000054523		0.502	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0.00	47	0	A			10364491	+1	tier1	-	no_errors	ENST00000377083	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.978	T
KIF26B	55083	genome.wustl.edu	37	1	245850994	245850994	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:245850994C>T	ENST00000407071.2	+	12	5149	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	KIF26B_ENST00000366518.4_Missense_Mutation_p.T1189I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1570					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCTCGGGCACCCCGCCCTCC	0.667																																																	0													11.0	14.0	13.0					1																	245850994		1953	4118	6071	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4709C>T	1.37:g.245850994C>T	ENSP00000385545:p.Thr1570Ile		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1570I	ENST00000407071.2	37	c.4709	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016372	0.07681	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78003	-1.14;-1.14	4.05	2.1	0.27182	.	.	.	.	.	T	0.62307	0.2417	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45963	-0.9225	9	0.25106	T	0.35	.	7.6879	0.28550	0.0:0.5956:0.3124:0.092	.	1189;1570	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1570;1189;1186	ENSP00000385545:T1570I;ENSP00000355475:T1189I	ENSP00000355475:T1189I	T	+	2	0	KIF26B	243917617	0.000000	0.05858	0.406000	0.26421	0.103000	0.19146	0.430000	0.21428	0.335000	0.23614	0.555000	0.69702	ACC	KIF26B	-	NULL	ENSG00000162849		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	54	0	C	XM_371354		245850994	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	11.11	47	6	SNP	0.291	T
KIF26B	55083	genome.wustl.edu	37	1	245850994	245850994	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:245850994C>T	ENST00000407071.2	+	12	5149	c.4709C>T	c.(4708-4710)aCc>aTc	p.T1570I	KIF26B_ENST00000366518.4_Missense_Mutation_p.T1189I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1570					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCTCGGGCACCCCGCCCTCC	0.667																																																	0													11.0	14.0	13.0					1																	245850994		1953	4118	6071	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4709C>T	1.37:g.245850994C>T	ENSP00000385545:p.Thr1570Ile		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1570I	ENST00000407071.2	37	c.4709	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016372	0.07681	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78003	-1.14;-1.14	4.05	2.1	0.27182	.	.	.	.	.	T	0.62307	0.2417	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45963	-0.9225	9	0.25106	T	0.35	.	7.6879	0.28550	0.0:0.5956:0.3124:0.092	.	1189;1570	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1570;1189;1186	ENSP00000385545:T1570I;ENSP00000355475:T1189I	ENSP00000355475:T1189I	T	+	2	0	KIF26B	243917617	0.000000	0.05858	0.406000	0.26421	0.103000	0.19146	0.430000	0.21428	0.335000	0.23614	0.555000	0.69702	ACC	KIF26B	-	NULL	ENSG00000162849		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	57	0	C	XM_371354		245850994	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	11.11	47	6	SNP	0.291	T
KIFC3	3801	genome.wustl.edu	37	16	57794989	57794989	+	Missense_Mutation	SNP	C	C	T	rs201690727	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:57794989C>T	ENST00000379655.4	-	15	2224	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	KIFC3_ENST00000539578.1_Missense_Mutation_p.R598Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.R517Q|KIFC3_ENST00000541240.1_Missense_Mutation_p.R678Q|KIFC3_ENST00000540079.2_Missense_Mutation_p.R554Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.R656Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.R517Q|KIFC3_ENST00000465878.2_Missense_Mutation_p.R517Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.R514Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	656	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCCACGCCTCGCACCGTCAC	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		20546	0.002		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG,GLN/ARG	1,4395	4.2+/-10.8	0,1,2197	78.0	69.0	72.0		1550,1967,1967	2.2	0.4	16		72	0,8598		0,0,4299	yes	missense,missense,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	43,43,43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	517/688,656/827,656/834	57794989	1,12993	2198	4299	6497	SO:0001583	missense	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1967G>A	16.37:g.57794989C>T	ENSP00000368976:p.Arg656Gln		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R656Q	ENST00000379655.4	37	c.1967	CCDS10789.2	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.636	1.137701	0.21123	2.27E-4	0.0	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.21	2.17	0.27698	Kinesin, motor domain (4);	0.533033	0.20814	N	0.085199	T	0.56262	0.1973	L	0.28400	0.85	0.28072	N	0.932529	B;B;B;B;B;B	0.19817	0.023;0.039;0.002;0.004;0.019;0.004	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.003;0.004;0.003	T	0.38200	-0.9672	10	0.14252	T	0.57	.	8.413	0.32655	0.0:0.6918:0.0:0.3082	.	678;598;514;554;656;517	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	Q	656;656;517;678;554;514;598	ENSP00000368976:R656Q;ENSP00000401696:R656Q;ENSP00000396399:R517Q;ENSP00000442008:R678Q;ENSP00000438805:R554Q;ENSP00000444012:R514Q;ENSP00000444884:R598Q	ENSP00000368976:R656Q	R	-	2	0	KIFC3	56352490	0.005000	0.15991	0.421000	0.26609	0.369000	0.29798	0.310000	0.19356	0.221000	0.20879	0.205000	0.17691	CGA	KIFC3	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000140859		0.652	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2		0.00	38	0	C	NM_005550		57794989	-1			no_errors	ENST00000379655	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.604	T
KLHDC1	122773	genome.wustl.edu	37	14	50190640	50190640	+	Silent	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:50190640A>G	ENST00000359332.2	+	5	543	c.453A>G	c.(451-453)caA>caG	p.Q151Q		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	151						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GTGAACTCCAAGACTGTTTTG	0.348																																																	0													205.0	181.0	189.0					14																	50190640		2203	4300	6503	SO:0001819	synonymous_variant	0			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.453A>G	14.37:g.50190640A>G			B3KXD9|Q8WYI1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.Q151	ENST00000359332.2	37	c.453	CCDS9692.1	14																																																																																			KLHDC1	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000197776		0.348	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	-	0.00	94	0	A	NM_172193		50190640	+1	tier1	-	no_errors	ENST00000359332	ensembl	human	known	74_37	silent	5.04	113	6	SNP	1.000	G
KLHDC1	122773	genome.wustl.edu	37	14	50190640	50190640	+	Silent	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:50190640A>G	ENST00000359332.2	+	5	543	c.453A>G	c.(451-453)caA>caG	p.Q151Q		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	151						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GTGAACTCCAAGACTGTTTTG	0.348																																																	0													205.0	181.0	189.0					14																	50190640		2203	4300	6503	SO:0001819	synonymous_variant	0			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.453A>G	14.37:g.50190640A>G			B3KXD9|Q8WYI1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller	p.Q151	ENST00000359332.2	37	c.453	CCDS9692.1	14																																																																																			KLHDC1	-	superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000197776		0.348	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC1	HGNC	protein_coding	OTTHUMT00000276882.2	-	0.00	95	0	A	NM_172193		50190640	+1	tier1	-	no_errors	ENST00000359332	ensembl	human	known	74_37	silent	5.04	113	6	SNP	1.000	G
KRT36	8689	genome.wustl.edu	37	17	39643973	39643973	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:39643973C>T	ENST00000328119.6	-	4	715	c.716G>A	c.(715-717)cGt>cAt	p.R239H	KRT36_ENST00000393986.2_Missense_Mutation_p.R189H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	239	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				AAGTTGGCAACGGAGTACACT	0.527																																																	0													111.0	94.0	100.0					17																	39643973		2203	4300	6503	SO:0001583	missense	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.716G>A	17.37:g.39643973C>T	ENSP00000329165:p.Arg239His		Q86XG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R239H	ENST00000328119.6	37	c.716	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013929	0.35511	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.29142	1.58;1.58	5.83	5.83	0.93111	Filament (1);	0.000000	0.50627	D	0.000106	T	0.39489	0.1080	M	0.72576	2.205	0.44352	D	0.997246	B	0.21606	0.058	B	0.34242	0.178	T	0.30880	-0.9963	10	0.66056	D	0.02	.	11.9853	0.53145	0.0:0.9149:0.0:0.0851	.	239	O76013	KRT36_HUMAN	H	189;239	ENSP00000377555:R189H;ENSP00000329165:R239H	ENSP00000329165:R239H	R	-	2	0	KRT36	36897499	0.093000	0.21703	0.996000	0.52242	0.055000	0.15305	0.904000	0.28491	2.769000	0.95229	0.655000	0.94253	CGT	KRT36	-	pfam_IF,superfamily_Prefoldin	ENSG00000126337		0.527	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	-	0.00	35	0	C	NM_003771		39643973	-1	tier1	-	no_errors	ENST00000328119	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.983	T
KRTAP27-1	643812	genome.wustl.edu	37	21	31709636	31709636	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31709636T>G	ENST00000382835.2	-	1	376	c.351A>C	c.(349-351)caA>caC	p.Q117H		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	117						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGCTTTCTGATTGGCAAGGCT	0.493																																																	0													124.0	128.0	127.0					21																	31709636		2203	4300	6503	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.351A>C	21.37:g.31709636T>G	ENSP00000372286:p.Gln117His			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.Q117H	ENST00000382835.2	37	c.351	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597844	0.46318	.	.	ENSG00000206107	ENST00000382835	T	0.03635	3.86	4.44	0.601	0.17529	.	0.549745	0.17378	N	0.176411	T	0.12220	0.0297	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.04708	-1.0932	10	0.66056	D	0.02	-1.6441	6.4771	0.22043	0.0:0.5718:0.0:0.4282	.	117	Q3LI81	KR271_HUMAN	H	117	ENSP00000372286:Q117H	ENSP00000372286:Q117H	Q	-	3	2	KRTAP27-1	30631507	0.163000	0.22920	0.006000	0.13384	0.074000	0.17049	-0.006000	0.12833	0.097000	0.17492	-0.462000	0.05337	CAA	KRTAP27-1	-	pfam_KRTAP_PMG	ENSG00000206107		0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	-	0.00	75	0	T	NM_001077711		31709636	-1	tier1	-	no_errors	ENST00000382835	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.007	G
KRTAP27-1	643812	genome.wustl.edu	37	21	31709675	31709675	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:31709675A>T	ENST00000382835.2	-	1	337	c.312T>A	c.(310-312)agT>agA	p.S104R		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	104						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGCTGAAGAACTTTCTGATT	0.522																																																	0													124.0	126.0	125.0					21																	31709675		2203	4300	6503	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.312T>A	21.37:g.31709675A>T	ENSP00000372286:p.Ser104Arg			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.S104R	ENST00000382835.2	37	c.312	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881337	0.17467	.	.	ENSG00000206107	ENST00000382835	T	0.03635	3.86	4.44	-4.2	0.03823	.	1.802540	0.03193	N	0.173670	T	0.02807	0.0084	N	0.21282	0.65	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.44314	-0.9336	10	0.36615	T	0.2	0.6509	3.7599	0.08601	0.3377:0.0:0.3636:0.2987	.	104	Q3LI81	KR271_HUMAN	R	104	ENSP00000372286:S104R	ENSP00000372286:S104R	S	-	3	2	KRTAP27-1	30631546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.030000	0.12308	-0.755000	0.04709	-0.326000	0.08463	AGT	KRTAP27-1	-	pfam_KRTAP_PMG	ENSG00000206107		0.522	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	-	0.00	63	0	A	NM_001077711		31709675	-1	tier1	-	no_errors	ENST00000382835	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.000	T
LCE2C	353140	genome.wustl.edu	37	1	152648726	152648726	+	Missense_Mutation	SNP	C	C	T	rs535714518		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:152648726C>T	ENST00000368783.1	+	2	290	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.682																																																	0													43.0	52.0	49.0					1																	152648726		2202	4299	6501	SO:0001583	missense	0				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.235C>T	1.37:g.152648726C>T	ENSP00000357772:p.Arg79Cys			Missense_Mutation	SNP	NULL	p.R79C	ENST00000368783.1	37	c.235	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782340	0.16189	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	2.59	0.469	0.16741	.	.	.	.	.	T	0.01523	0.0049	L	0.49778	1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	9	0.87932	D	0	.	2.6277	0.04934	0.2787:0.5447:0.0:0.1766	.	79	Q5TA81	LCE2C_HUMAN	C	79	ENSP00000357772:R79C	ENSP00000357772:R79C	R	+	1	0	LCE2C	150915350	0.000000	0.05858	0.010000	0.14722	0.409000	0.31022	0.572000	0.23684	0.120000	0.18254	0.563000	0.77884	CGT	LCE2C	-	NULL	ENSG00000187180		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0.00	131	0	C	NM_178429		152648726	+1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	8.55	107	10	SNP	0.010	T
LCE2C	353140	genome.wustl.edu	37	1	152648726	152648726	+	Missense_Mutation	SNP	C	C	T	rs535714518		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:152648726C>T	ENST00000368783.1	+	2	290	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.682																																																	0													43.0	52.0	49.0					1																	152648726		2202	4299	6501	SO:0001583	missense	0				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.235C>T	1.37:g.152648726C>T	ENSP00000357772:p.Arg79Cys			Missense_Mutation	SNP	NULL	p.R79C	ENST00000368783.1	37	c.235	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782340	0.16189	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	2.59	0.469	0.16741	.	.	.	.	.	T	0.01523	0.0049	L	0.49778	1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	9	0.87932	D	0	.	2.6277	0.04934	0.2787:0.5447:0.0:0.1766	.	79	Q5TA81	LCE2C_HUMAN	C	79	ENSP00000357772:R79C	ENSP00000357772:R79C	R	+	1	0	LCE2C	150915350	0.000000	0.05858	0.010000	0.14722	0.409000	0.31022	0.572000	0.23684	0.120000	0.18254	0.563000	0.77884	CGT	LCE2C	-	NULL	ENSG00000187180		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0.00	144	0	C	NM_178429		152648726	+1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	8.55	107	10	SNP	0.010	T
LDB2	9079	genome.wustl.edu	37	4	16504719	16504719	+	Intron	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:16504719G>A	ENST00000304523.5	-	8	1215				LDB2_ENST00000515064.1_Intron|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_Silent_p.C185C|LDB2_ENST00000502640.1_Silent_p.C309C|LDB2_ENST00000441778.2_Intron	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2						epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TCCTTAGTGCGCAGCCTGACA	0.408																																																	0																																										SO:0001627	intron_variant	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.892-223C>T	4.37:g.16504719G>A			O60619|O75480	Silent	SNP	NULL	p.C185	ENST00000304523.5	37	c.555	CCDS3420.1	4																																																																																			LDB2	-	NULL	ENSG00000169744		0.408	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	-	0.00	93	0	G			16504719	-1	tier1	-	no_errors	ENST00000503178	ensembl	human	known	74_37	silent	9.46	67	7	SNP	0.882	A
LEPR	3953	genome.wustl.edu	37	1	66102029	66102029	+	Silent	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:66102029T>G	ENST00000349533.6	+	20	3014	c.2829T>G	c.(2827-2829)ctT>ctG	p.L943L	LEPR_ENST00000406510.3_Silent_p.L10L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTCTCTACTTTCAACAACAG	0.398																																																	0													148.0	142.0	144.0					1																	66102029		2203	4300	6503	SO:0001819	synonymous_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2829T>G	1.37:g.66102029T>G			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L943	ENST00000349533.6	37	c.2829	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0.00	53	0	T	NM_002303		66102029	+1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.000	G
LEPR	3953	genome.wustl.edu	37	1	66102029	66102029	+	Silent	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:66102029T>G	ENST00000349533.6	+	20	3014	c.2829T>G	c.(2827-2829)ctT>ctG	p.L943L	LEPR_ENST00000406510.3_Silent_p.L10L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTCTCTACTTTCAACAACAG	0.398																																																	0													148.0	142.0	144.0					1																	66102029		2203	4300	6503	SO:0001819	synonymous_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2829T>G	1.37:g.66102029T>G			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L943	ENST00000349533.6	37	c.2829	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	-	0.00	71	0	T	NM_002303		66102029	+1	tier1	-	no_errors	ENST00000349533	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.000	G
LGALS4	3960	genome.wustl.edu	37	19	39292410	39292410	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:39292410C>G	ENST00000307751.4	-	10	1443	c.966G>C	c.(964-966)caG>caC	p.Q322H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	322	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TAGATTAGATCTGGACATAGG	0.493																																																	0													95.0	86.0	89.0					19																	39292410		2203	4300	6503	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.966G>C	19.37:g.39292410C>G	ENSP00000302100:p.Gln322His			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.Q322H	ENST00000307751.4	37	c.966	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604450	0.28623	.	.	ENSG00000171747	ENST00000307751	T	0.05258	3.47	5.14	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.251179	0.38837	N	0.001542	T	0.06600	0.0169	L	0.35593	1.075	0.42567	D	0.993165	B	0.14805	0.011	B	0.19391	0.025	T	0.24977	-1.0145	10	0.40728	T	0.16	-26.0803	12.7021	0.57038	0.0:0.9173:0.0:0.0827	.	322	P56470	LEG4_HUMAN	H	322	ENSP00000302100:Q322H	ENSP00000302100:Q322H	Q	-	3	2	LGALS4	43984250	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.863000	0.27913	1.163000	0.42636	0.491000	0.48974	CAG	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000171747		0.493	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	-	0.00	109	0	C	NM_006149		39292410	-1	tier1	-	no_errors	ENST00000307751	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G
LGALS4	3960	genome.wustl.edu	37	19	39292410	39292410	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:39292410C>G	ENST00000307751.4	-	10	1443	c.966G>C	c.(964-966)caG>caC	p.Q322H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	322	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TAGATTAGATCTGGACATAGG	0.493																																																	0													95.0	86.0	89.0					19																	39292410		2203	4300	6503	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.966G>C	19.37:g.39292410C>G	ENSP00000302100:p.Gln322His			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.Q322H	ENST00000307751.4	37	c.966	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604450	0.28623	.	.	ENSG00000171747	ENST00000307751	T	0.05258	3.47	5.14	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.251179	0.38837	N	0.001542	T	0.06600	0.0169	L	0.35593	1.075	0.42567	D	0.993165	B	0.14805	0.011	B	0.19391	0.025	T	0.24977	-1.0145	10	0.40728	T	0.16	-26.0803	12.7021	0.57038	0.0:0.9173:0.0:0.0827	.	322	P56470	LEG4_HUMAN	H	322	ENSP00000302100:Q322H	ENSP00000302100:Q322H	Q	-	3	2	LGALS4	43984250	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.863000	0.27913	1.163000	0.42636	0.491000	0.48974	CAG	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000171747		0.493	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	-	0.00	80	0	C	NM_006149		39292410	-1	tier1	-	no_errors	ENST00000307751	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G
LGI1	9211	genome.wustl.edu	37	10	95518077	95518077	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95518077G>C	ENST00000371418.4	+	1	436	c.176G>C	c.(175-177)aGa>aCa	p.R59T	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Missense_Mutation_p.R59T|LGI1_ENST00000371413.3_Missense_Mutation_p.R59T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	59	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAGAATGCCAGATCCATTCCA	0.433																																																	0													173.0	167.0	169.0					10																	95518077		2203	4300	6503	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.176G>C	10.37:g.95518077G>C	ENSP00000360472:p.Arg59Thr		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R59T	ENST00000371418.4	37	c.176	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759495	0.15846	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.76578	-1.03;-0.06;0.03	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (1);	0.213883	0.50627	D	0.000114	T	0.64702	0.2622	L	0.40543	1.245	0.45390	D	0.998379	P;B;B	0.37276	0.589;0.022;0.004	B;B;B	0.33620	0.167;0.022;0.007	T	0.60732	-0.7205	10	0.15066	T	0.55	-11.7645	10.4038	0.44246	0.1497:0.0:0.8503:0.0	.	59;59;59	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	T	59	ENSP00000440763:R59T;ENSP00000360472:R59T;ENSP00000360467:R59T	ENSP00000360467:R59T	R	+	2	0	LGI1	95508067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.673000	0.90976	0.555000	0.69702	AGA	LGI1	-	NULL	ENSG00000108231		0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0.00	73	0	G	NM_005097		95518077	+1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	C
LGI1	9211	genome.wustl.edu	37	10	95518077	95518077	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:95518077G>C	ENST00000371418.4	+	1	436	c.176G>C	c.(175-177)aGa>aCa	p.R59T	LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Missense_Mutation_p.R59T|LGI1_ENST00000371413.3_Missense_Mutation_p.R59T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	59	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAGAATGCCAGATCCATTCCA	0.433																																																	0													173.0	167.0	169.0					10																	95518077		2203	4300	6503	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.176G>C	10.37:g.95518077G>C	ENSP00000360472:p.Arg59Thr		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R59T	ENST00000371418.4	37	c.176	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759495	0.15846	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.76578	-1.03;-0.06;0.03	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (1);	0.213883	0.50627	D	0.000114	T	0.64702	0.2622	L	0.40543	1.245	0.45390	D	0.998379	P;B;B	0.37276	0.589;0.022;0.004	B;B;B	0.33620	0.167;0.022;0.007	T	0.60732	-0.7205	10	0.15066	T	0.55	-11.7645	10.4038	0.44246	0.1497:0.0:0.8503:0.0	.	59;59;59	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	T	59	ENSP00000440763:R59T;ENSP00000360472:R59T;ENSP00000360467:R59T	ENSP00000360467:R59T	R	+	2	0	LGI1	95508067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.673000	0.90976	0.555000	0.69702	AGA	LGI1	-	NULL	ENSG00000108231		0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0.00	77	0	G	NM_005097		95518077	+1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	C
LHFPL3	375612	genome.wustl.edu	37	7	103969251	103969251	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000401970.2_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	14.0	13.0					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A8	ENST00000535008.1	37	c.24		7																																																																																			LHFPL3	-	NULL	ENSG00000187416		0.721	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	HGNC	protein_coding			0.00	29	0	C	NM_199000		103969251	+1			no_errors	ENST00000535008	ensembl	human	known	74_37	silent	10.53	17	2	SNP	1.000	T
LIMD1	8994	genome.wustl.edu	37	3	45637430	45637430	+	Silent	SNP	G	G	C	rs199819721		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:45637430G>C	ENST00000273317.4	+	1	1080	c.1059G>C	c.(1057-1059)tcG>tcC	p.S353S	LIMD1_ENST00000440097.1_Silent_p.S353S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	353					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CGTCATCCTCGCCAGCTGGTC	0.617																																																	0													70.0	69.0	69.0					3																	45637430		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1059G>C	3.37:g.45637430G>C			Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S353	ENST00000273317.4	37	c.1059	CCDS2729.1	3																																																																																			LIMD1	-	NULL	ENSG00000144791		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	-	0.00	44	0	G	NM_014240		45637430	+1	tier1	-	no_errors	ENST00000273317	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	C
LIMD1	8994	genome.wustl.edu	37	3	45637430	45637430	+	Silent	SNP	G	G	C	rs199819721		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:45637430G>C	ENST00000273317.4	+	1	1080	c.1059G>C	c.(1057-1059)tcG>tcC	p.S353S	LIMD1_ENST00000440097.1_Silent_p.S353S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	353					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CGTCATCCTCGCCAGCTGGTC	0.617																																																	0													70.0	69.0	69.0					3																	45637430		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1059G>C	3.37:g.45637430G>C			Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S353	ENST00000273317.4	37	c.1059	CCDS2729.1	3																																																																																			LIMD1	-	NULL	ENSG00000144791		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	-	0.00	63	0	G	NM_014240		45637430	+1	tier1	-	no_errors	ENST00000273317	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	C
LINC00917	732275	genome.wustl.edu	37	16	86371285	86371285	+	lincRNA	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:86371285C>A	ENST00000594203.1	-	0	1218									long intergenic non-protein coding RNA 917																		CGTCCCCGCCCACCTGGCCTG	0.602																																																	0																																												0					16q24.1	2013-05-24			ENSG00000168367	ENSG00000168367		"""Long non-coding RNAs"""	48607	non-coding RNA	RNA, long non-coding							Standard	NR_024406		Approved				OTTHUMG00000183867		16.37:g.86371285C>A				RNA	SNP	-	NULL	ENST00000594203.1	37	NULL		16																																																																																			LINC00917	-	-	ENSG00000168367		0.602	LINC00917-002	KNOWN	basic	lincRNA	LINC00917	HGNC	lincRNA	OTTHUMT00000467202.1		0.00	36	0	C			86371285	-1			no_errors	ENST00000594203	ensembl	human	known	74_37	rna	7.69	35	3	SNP	0.041	A
LMO7	4008	genome.wustl.edu	37	13	76430682	76430682	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:76430682G>A	ENST00000321797.8	+	28	4833	c.4112G>A	c.(4111-4113)gGa>gAa	p.G1371E	LMO7_ENST00000465261.2_Missense_Mutation_p.E1335K|LMO7_ENST00000526202.1_Missense_Mutation_p.G1248E|LMO7_ENST00000357063.3_Missense_Mutation_p.E1620K|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.G1322E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1656					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCTTCCTCAGGAGCTGAAGTC	0.443																																																	0													154.0	151.0	152.0					13																	76430682		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4112G>A	13.37:g.76430682G>A	ENSP00000317802:p.Gly1371Glu		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E1620K	ENST00000321797.8	37	c.4858		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.064262|6.064262	0.97251|0.97251	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000465261|ENST00000341547;ENST00000321797;ENST00000526202	T;T|T;T;T	0.46063|0.68181	1.45;0.88|0.19;-0.22;-0.31	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.252628	.|0.38720	.|N	.|0.001595	T|T	0.69682|0.69682	0.3138|0.3138	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D;D	0.89917|0.89917	1.0|1.0;1.0	D|D;D	0.69307|0.97110	0.963|1.0;1.0	T|T	0.76833|0.76833	-0.2813|-0.2813	9|10	0.87932|0.87932	D|D	0|0	-28.3044|-28.3044	20.1736|20.1736	0.98170|0.98170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1335|1248;1322	E9PLH4|E9PMS6;Q8WWI1-3	.|.;.	K|E	1620;1335|1322;1371;1248	ENSP00000349571:E1620K;ENSP00000433352:E1335K|ENSP00000342112:G1322E;ENSP00000317802:G1371E;ENSP00000431129:G1248E	ENSP00000349571:E1620K|ENSP00000317802:G1371E	E|G	+|+	1|2	0|0	LMO7|LMO7	75328683|75328683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	9.198000|9.198000	0.94994|0.94994	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	GAG|GGA	LMO7	-	NULL	ENSG00000136153		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	-	0.00	18	0	G	NM_005358		76430682	+1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	A
LOC101927924	101927924	genome.wustl.edu	37	2	130681240	130681240	+	lincRNA	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:130681240G>A	ENST00000450840.1	+	0	105				AC079776.2_ENST00000433290.1_RNA																							GGTGATCCACGGTCTTCTCTA	0.617																																																	0																																												0																															2.37:g.130681240G>A				RNA	SNP	-	NULL	ENST00000450840.1	37	NULL		2																																																																																			AC079776.2	-	-	ENSG00000214100		0.617	AC079776.3-001	KNOWN	basic	lincRNA	LOC389033	Clone_based_vega_gene	lincRNA	OTTHUMT00000331345.1	-	0.00	128	0	G			130681240	-1	tier1	-	no_errors	ENST00000433290	ensembl	human	known	74_37	rna	12.64	76	11	SNP	0.691	A
LONRF1	91694	genome.wustl.edu	37	8	12595527	12595527	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:12595527G>A	ENST00000398246.3	-	4	1159	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.L7F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	364							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGTTCATTGAGAGACTGAGAC	0.398																																																	0													117.0	105.0	109.0					8																	12595527		1873	4114	5987	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1090C>T	8.37:g.12595527G>A	ENSP00000381298:p.Leu364Phe		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L364F	ENST00000398246.3	37	c.1090	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	1.710	-0.499377	0.04291	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;T	0.80738	0.83;-1.41	5.35	2.58	0.30949	.	0.191435	0.16346	U	0.218424	T	0.63082	0.2481	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44982	-0.9292	10	0.19147	T	0.46	-0.9129	10.296	0.43625	0.0:0.4435:0.4264:0.1301	.	364	Q17RB8	LONF1_HUMAN	F	364;7	ENSP00000381298:L364F;ENSP00000432130:L7F	ENSP00000381298:L364F	L	-	1	0	LONRF1	12639898	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	0.266000	0.18534	0.465000	0.27167	-0.122000	0.15005	CTC	LONRF1	-	NULL	ENSG00000154359		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0.00	103	0	G	NM_152271		12595527	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	missense	18.38	111	25	SNP	0.001	A
LONRF1	91694	genome.wustl.edu	37	8	12595527	12595527	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:12595527G>A	ENST00000398246.3	-	4	1159	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.L7F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	364							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGTTCATTGAGAGACTGAGAC	0.398																																																	0													117.0	105.0	109.0					8																	12595527		1873	4114	5987	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1090C>T	8.37:g.12595527G>A	ENSP00000381298:p.Leu364Phe		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L364F	ENST00000398246.3	37	c.1090	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	1.710	-0.499377	0.04291	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;T	0.80738	0.83;-1.41	5.35	2.58	0.30949	.	0.191435	0.16346	U	0.218424	T	0.63082	0.2481	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44982	-0.9292	10	0.19147	T	0.46	-0.9129	10.296	0.43625	0.0:0.4435:0.4264:0.1301	.	364	Q17RB8	LONF1_HUMAN	F	364;7	ENSP00000381298:L364F;ENSP00000432130:L7F	ENSP00000381298:L364F	L	-	1	0	LONRF1	12639898	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	0.266000	0.18534	0.465000	0.27167	-0.122000	0.15005	CTC	LONRF1	-	NULL	ENSG00000154359		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0.00	87	0	G	NM_152271		12595527	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	missense	18.38	111	25	SNP	0.001	A
LPIN3	64900	genome.wustl.edu	37	20	39986652	39986652	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:39986652A>C	ENST00000373257.3	+	17	2261	c.2170A>C	c.(2170-2172)Agc>Cgc	p.S724R	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	724	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GTCTCCCAGCAGCCTCTTCTC	0.662																																																	0													53.0	53.0	53.0					20																	39986652		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2170A>C	20.37:g.39986652A>C	ENSP00000362354:p.Ser724Arg		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S724R	ENST00000373257.3	37	c.2170	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018961	0.93404	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.75477	-0.94	5.55	5.55	0.83447	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79252	-0.1880	9	.	.	.	-23.8609	15.6963	0.77502	1.0:0.0:0.0:0.0	.	725;724	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	R	724;357	ENSP00000362354:S724R	.	S	+	1	0	LPIN3	39420066	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	2.105000	0.64084	0.528000	0.53228	AGC	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.662	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	79	0	A	NM_022896		39986652	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	11.01	97	12	SNP	1.000	C
LPIN3	64900	genome.wustl.edu	37	20	39986652	39986652	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:39986652A>C	ENST00000373257.3	+	17	2261	c.2170A>C	c.(2170-2172)Agc>Cgc	p.S724R	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	724	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GTCTCCCAGCAGCCTCTTCTC	0.662																																																	0													53.0	53.0	53.0					20																	39986652		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2170A>C	20.37:g.39986652A>C	ENSP00000362354:p.Ser724Arg		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S724R	ENST00000373257.3	37	c.2170	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018961	0.93404	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.75477	-0.94	5.55	5.55	0.83447	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79252	-0.1880	9	.	.	.	-23.8609	15.6963	0.77502	1.0:0.0:0.0:0.0	.	725;724	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	R	724;357	ENSP00000362354:S724R	.	S	+	1	0	LPIN3	39420066	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	2.105000	0.64084	0.528000	0.53228	AGC	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.662	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	90	0	A	NM_022896		39986652	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	11.01	97	12	SNP	1.000	C
LRP1	4035	genome.wustl.edu	37	12	57543467	57543467	+	Intron	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:57543467G>A	ENST00000243077.3	+	6	1307				LRP1_ENST00000338962.4_3'UTR|LRP1_ENST00000553277.1_Silent_p.R282R|LRP1_ENST00000554174.1_Intron|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCACAGGCAGGAGCAGGAAGA	0.572																																																	0													16.0	14.0	14.0					12																	57543467		870	1982	2852	SO:0001627	intron_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.841+4194G>A	12.37:g.57543467G>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.R282	ENST00000243077.3	37	c.846	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.572	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	27	0	G	NM_002332		57543467	+1	tier1	-	no_errors	ENST00000553277	ensembl	human	putative	74_37	silent	19.57	37	9	SNP	0.002	A
LRP1	4035	genome.wustl.edu	37	12	57543467	57543467	+	Intron	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:57543467G>A	ENST00000243077.3	+	6	1307				LRP1_ENST00000338962.4_3'UTR|LRP1_ENST00000553277.1_Silent_p.R282R|LRP1_ENST00000554174.1_Intron|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCACAGGCAGGAGCAGGAAGA	0.572																																																	0													16.0	14.0	14.0					12																	57543467		870	1982	2852	SO:0001627	intron_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.841+4194G>A	12.37:g.57543467G>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.R282	ENST00000243077.3	37	c.846	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.572	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	79	0	G	NM_002332		57543467	+1	tier1	-	no_errors	ENST00000553277	ensembl	human	putative	74_37	silent	19.57	37	9	SNP	0.002	A
LRP1B	53353	genome.wustl.edu	37	2	141272283	141272283	+	Silent	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:141272283A>G	ENST00000389484.3	-	51	9179	c.8208T>C	c.(8206-8208)caT>caC	p.H2736H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2736	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAAATCCAATGCTTAGAAA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130.0	121.0	124.0					2																	141272283		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8208T>C	2.37:g.141272283A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H2736	ENST00000389484.3	37	c.8208	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	68	0	A	NM_018557		141272283	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.996	G
LRP1B	53353	genome.wustl.edu	37	2	141272283	141272283	+	Silent	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:141272283A>G	ENST00000389484.3	-	51	9179	c.8208T>C	c.(8206-8208)caT>caC	p.H2736H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2736	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAAATCCAATGCTTAGAAA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130.0	121.0	124.0					2																	141272283		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8208T>C	2.37:g.141272283A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H2736	ENST00000389484.3	37	c.8208	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	94	0	A	NM_018557		141272283	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.996	G
LRP2	4036	genome.wustl.edu	37	2	170007486	170007486	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170007486A>G	ENST00000263816.3	-	68	12797	c.12512T>C	c.(12511-12513)cTt>cCt	p.L4171P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4171					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCTTCCATCAAGTTTAGCCAC	0.428																																																	0													180.0	159.0	166.0					2																	170007486		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12512T>C	2.37:g.170007486A>G	ENSP00000263816:p.Leu4171Pro		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4171P	ENST00000263816.3	37	c.12512	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006123	0.74932	.	.	ENSG00000081479	ENST00000263816	D	0.89270	-2.49	5.86	5.86	0.93980	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95768	0.8623	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96190	0.9137	10	0.52906	T	0.07	.	16.2453	0.82441	1.0:0.0:0.0:0.0	.	4171	P98164	LRP2_HUMAN	P	4171	ENSP00000263816:L4171P	ENSP00000263816:L4171P	L	-	2	0	LRP2	169715732	1.000000	0.71417	0.985000	0.45067	0.813000	0.45954	9.078000	0.94023	2.241000	0.73720	0.533000	0.62120	CTT	LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	92	0	A	NM_004525		170007486	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170007486	170007486	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170007486A>G	ENST00000263816.3	-	68	12797	c.12512T>C	c.(12511-12513)cTt>cCt	p.L4171P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4171					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCTTCCATCAAGTTTAGCCAC	0.428																																																	0													180.0	159.0	166.0					2																	170007486		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12512T>C	2.37:g.170007486A>G	ENSP00000263816:p.Leu4171Pro		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4171P	ENST00000263816.3	37	c.12512	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006123	0.74932	.	.	ENSG00000081479	ENST00000263816	D	0.89270	-2.49	5.86	5.86	0.93980	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95768	0.8623	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96190	0.9137	10	0.52906	T	0.07	.	16.2453	0.82441	1.0:0.0:0.0:0.0	.	4171	P98164	LRP2_HUMAN	P	4171	ENSP00000263816:L4171P	ENSP00000263816:L4171P	L	-	2	0	LRP2	169715732	1.000000	0.71417	0.985000	0.45067	0.813000	0.45954	9.078000	0.94023	2.241000	0.73720	0.533000	0.62120	CTT	LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	93	0	A	NM_004525		170007486	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170070266	170070266	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170070266C>G	ENST00000263816.3	-	36	6226	c.5941G>C	c.(5941-5943)Gag>Cag	p.E1981Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1981					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCAATGACCTCATACTGTTCA	0.443																																																	0													129.0	128.0	129.0					2																	170070266		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5941G>C	2.37:g.170070266C>G	ENSP00000263816:p.Glu1981Gln		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1981Q	ENST00000263816.3	37	c.5941	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869064	0.72065	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93364	0.6729	10	0.45353	T	0.12	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1981	P98164	LRP2_HUMAN	Q	1981	ENSP00000263816:E1981Q	ENSP00000263816:E1981Q	E	-	1	0	LRP2	169778512	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	5.900000	0.69853	2.831000	0.97527	0.650000	0.86243	GAG	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	62	0	C	NM_004525		170070266	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170070266	170070266	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:170070266C>G	ENST00000263816.3	-	36	6226	c.5941G>C	c.(5941-5943)Gag>Cag	p.E1981Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1981					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCAATGACCTCATACTGTTCA	0.443																																																	0													129.0	128.0	129.0					2																	170070266		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5941G>C	2.37:g.170070266C>G	ENSP00000263816:p.Glu1981Gln		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1981Q	ENST00000263816.3	37	c.5941	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869064	0.72065	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93364	0.6729	10	0.45353	T	0.12	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1981	P98164	LRP2_HUMAN	Q	1981	ENSP00000263816:E1981Q	ENSP00000263816:E1981Q	E	-	1	0	LRP2	169778512	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	5.900000	0.69853	2.831000	0.97527	0.650000	0.86243	GAG	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	84	0	C	NM_004525		170070266	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G
LRRC18	474354	genome.wustl.edu	37	10	50122166	50122166	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50122166T>C	ENST00000374160.3	-	1	111	c.35A>G	c.(34-36)aAg>aGg	p.K12R	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K12R|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	12						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAGGGTGATCTTCTTGCCCTT	0.438																																																	0													63.0	61.0	62.0					10																	50122166		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.35A>G	10.37:g.50122166T>C	ENSP00000363275:p.Lys12Arg		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K12R	ENST00000374160.3	37	c.35	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427653	0.83667	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.59364	0.45;0.27	6.06	6.06	0.98353	.	0.142490	0.64402	D	0.000009	T	0.56441	0.1985	M	0.74881	2.28	0.48511	D	0.999664	P	0.47106	0.89	B	0.38954	0.286	T	0.61831	-0.6982	9	.	.	.	.	12.3891	0.55348	0.0:0.0668:0.0:0.9332	.	12	Q8N456	LRC18_HUMAN	R	12	ENSP00000363275:K12R;ENSP00000298124:K12R	.	K	-	2	0	LRRC18	49792172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.033000	0.64146	2.323000	0.78572	0.528000	0.53228	AAG	LRRC18	-	NULL	ENSG00000165383		0.438	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0.00	36	0	T	NM_001006939		50122166	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	C
LRRC18	474354	genome.wustl.edu	37	10	50122166	50122166	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50122166T>C	ENST00000374160.3	-	1	111	c.35A>G	c.(34-36)aAg>aGg	p.K12R	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K12R|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	12						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAGGGTGATCTTCTTGCCCTT	0.438																																																	0													63.0	61.0	62.0					10																	50122166		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.35A>G	10.37:g.50122166T>C	ENSP00000363275:p.Lys12Arg		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K12R	ENST00000374160.3	37	c.35	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427653	0.83667	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.59364	0.45;0.27	6.06	6.06	0.98353	.	0.142490	0.64402	D	0.000009	T	0.56441	0.1985	M	0.74881	2.28	0.48511	D	0.999664	P	0.47106	0.89	B	0.38954	0.286	T	0.61831	-0.6982	9	.	.	.	.	12.3891	0.55348	0.0:0.0668:0.0:0.9332	.	12	Q8N456	LRC18_HUMAN	R	12	ENSP00000363275:K12R;ENSP00000298124:K12R	.	K	-	2	0	LRRC18	49792172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.033000	0.64146	2.323000	0.78572	0.528000	0.53228	AAG	LRRC18	-	NULL	ENSG00000165383		0.438	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0.00	41	0	T	NM_001006939		50122166	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	C
LRRK1	79705	genome.wustl.edu	37	15	101606295	101606295	+	Missense_Mutation	SNP	G	G	A	rs377202593		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:101606295G>A	ENST00000388948.3	+	32	6012	c.5653G>A	c.(5653-5655)Ggt>Agt	p.G1885S	LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.G1882S|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACATACGCCCGGTGCTGCCTC	0.632																																																	0								G	SER/GLY	0,4300		0,0,2150	96.0	104.0	101.0		5653	-10.7	0.0	15		101	1,8519		0,1,4259	no	missense	LRRK1	NM_024652.3	56	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	benign	1885/2016	101606295	1,12819	2150	4260	6410	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5653G>A	15.37:g.101606295G>A	ENSP00000373600:p.Gly1885Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.G1885S	ENST00000388948.3	37	c.5653	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860207	0.02610	0.0	1.17E-4	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70986	-0.51;-0.53	5.35	-10.7	0.00240	.	1.649450	0.02641	N	0.105344	T	0.39462	0.1079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.11182	T	0.66	.	4.6206	0.12447	0.5649:0.0862:0.2641:0.0848	.	1885	Q38SD2	LRRK1_HUMAN	S	1885;1882;576;439	ENSP00000373600:G1885S;ENSP00000284395:G1882S	ENSP00000284395:G1882S	G	+	1	0	LRRK1	99423818	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.094000	0.15107	-2.418000	0.00566	-1.610000	0.00802	GGT	LRRK1	-	NULL	ENSG00000154237		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2		0.00	31	0	G	NM_024652		101606295	+1			no_errors	ENST00000388948	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.000	A
LRRTM4	80059	genome.wustl.edu	37	2	77746393	77746393	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:77746393A>C	ENST00000409093.1	-	3	938	c.602T>G	c.(601-603)tTt>tGt	p.F201C	LRRTM4_ENST00000409911.1_Missense_Mutation_p.F202C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.F201C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.F202C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.F201C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	201					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGGCCAGCAAATGCATTTCG	0.433																																																	0													65.0	63.0	64.0					2																	77746393		1865	4086	5951	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.602T>G	2.37:g.77746393A>C	ENSP00000386357:p.Phe201Cys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F202C	ENST00000409093.1	37	c.605	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077797	0.55753	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.995	D	0.91328	0.5087	10	0.87932	D	0	.	14.6442	0.68748	1.0:0.0:0.0:0.0	.	202;201;201	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	202;201;201;201;202	ENSP00000387228:F202C;ENSP00000387297:F201C;ENSP00000386357:F201C;ENSP00000386236:F201C;ENSP00000386286:F202C	ENSP00000386236:F201C	F	-	2	0	LRRTM4	77599901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.139000	0.66308	0.460000	0.39030	TTT	LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.433	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0.00	45	0	A	NM_024993		77746393	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C
LZTS2	84445	genome.wustl.edu	37	10	102763855	102763855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:102763855C>T	ENST00000370220.1	+	2	4063	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R334*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGGAAAGCTCCGAGACCGGGA	0.637																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													44.0	47.0	46.0					10																	102763855		2202	4298	6500	SO:0001587	stop_gained	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1000C>T	10.37:g.102763855C>T	ENSP00000359240:p.Arg334*			Nonsense_Mutation	SNP	NULL	p.R334*	ENST00000370220.1	37	c.1000	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	56	26.378475	0.99968	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.12	3.1	0.35709	.	0.178169	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7345	12.7394	0.57243	0.4172:0.5827:0.0:0.0	.	.	.	.	X	334	.	.	R	+	1	2	LZTS2	102753845	0.987000	0.35691	0.521000	0.27850	0.824000	0.46624	0.780000	0.26760	1.258000	0.44101	0.561000	0.74099	CGA	LZTS2	-	NULL	ENSG00000107816		0.637	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	-	0.00	71	0	C	XM_046743		102763855	+1	tier1	-	no_errors	ENST00000370220	ensembl	human	known	74_37	nonsense	11.54	69	9	SNP	0.988	T
LZTS2	84445	genome.wustl.edu	37	10	102763855	102763855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:102763855C>T	ENST00000370220.1	+	2	4063	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R334*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGGAAAGCTCCGAGACCGGGA	0.637																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													44.0	47.0	46.0					10																	102763855		2202	4298	6500	SO:0001587	stop_gained	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1000C>T	10.37:g.102763855C>T	ENSP00000359240:p.Arg334*			Nonsense_Mutation	SNP	NULL	p.R334*	ENST00000370220.1	37	c.1000	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	C	56	26.378475	0.99968	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.12	3.1	0.35709	.	0.178169	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7345	12.7394	0.57243	0.4172:0.5827:0.0:0.0	.	.	.	.	X	334	.	.	R	+	1	2	LZTS2	102753845	0.987000	0.35691	0.521000	0.27850	0.824000	0.46624	0.780000	0.26760	1.258000	0.44101	0.561000	0.74099	CGA	LZTS2	-	NULL	ENSG00000107816		0.637	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	-	0.00	83	0	C	XM_046743		102763855	+1	tier1	-	no_errors	ENST00000370220	ensembl	human	known	74_37	nonsense	11.54	69	9	SNP	0.988	T
MAGED2	10916	genome.wustl.edu	37	X	54842001	54842001	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:54842001C>A	ENST00000375068.1	+	12	1940	c.1707C>A	c.(1705-1707)ttC>ttA	p.F569L	MAGED2_ENST00000218439.4_Missense_Mutation_p.F569L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F569L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F569L|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.F484L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F484L|MAGED2_ENST00000347546.4_Missense_Mutation_p.F551L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F569L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	569						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						gtgGTGGCTTCAGTGCTGGTG	0.597																																																	0													29.0	19.0	22.0					X																	54842001		2171	4221	6392	SO:0001583	missense	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1707C>A	X.37:g.54842001C>A	ENSP00000364209:p.Phe569Leu		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F569L	ENST00000375068.1	37	c.1707	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428257	0.11987	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.03745	3.82;3.82;3.97;3.84;3.87;3.82;3.82;3.87;3.82	3.9	-0.295	0.12828	.	0.316688	0.23118	N	0.051727	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.10382	-1.0632	10	0.02654	T	1	.	9.858	0.41096	0.0:0.8158:0.0:0.1842	.	484;569	Q5H907;Q9UNF1	.;MAGD2_HUMAN	L	569;569;513;551;484;569;569;484;569	ENSP00000364209:F569L;ENSP00000364193:F569L;ENSP00000336962:F513L;ENSP00000340290:F551L;ENSP00000364202:F484L;ENSP00000218439:F569L;ENSP00000364198:F569L;ENSP00000364200:F484L;ENSP00000379526:F569L	ENSP00000218439:F569L	F	+	3	2	MAGED2	54858726	0.181000	0.23161	0.054000	0.19295	0.251000	0.25915	-0.226000	0.09139	-0.184000	0.10567	0.513000	0.50165	TTC	MAGED2	-	NULL	ENSG00000102316		0.597	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	-	0.00	37	0	C	NM_014599		54842001	+1	tier1	-	no_errors	ENST00000218439	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.049	A
MAGED2	10916	genome.wustl.edu	37	X	54842001	54842001	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:54842001C>A	ENST00000375068.1	+	12	1940	c.1707C>A	c.(1705-1707)ttC>ttA	p.F569L	MAGED2_ENST00000218439.4_Missense_Mutation_p.F569L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F569L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F569L|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.F484L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F484L|MAGED2_ENST00000347546.4_Missense_Mutation_p.F551L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F569L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	569						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						gtgGTGGCTTCAGTGCTGGTG	0.597																																																	0													29.0	19.0	22.0					X																	54842001		2171	4221	6392	SO:0001583	missense	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1707C>A	X.37:g.54842001C>A	ENSP00000364209:p.Phe569Leu		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F569L	ENST00000375068.1	37	c.1707	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428257	0.11987	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.03745	3.82;3.82;3.97;3.84;3.87;3.82;3.82;3.87;3.82	3.9	-0.295	0.12828	.	0.316688	0.23118	N	0.051727	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.10382	-1.0632	10	0.02654	T	1	.	9.858	0.41096	0.0:0.8158:0.0:0.1842	.	484;569	Q5H907;Q9UNF1	.;MAGD2_HUMAN	L	569;569;513;551;484;569;569;484;569	ENSP00000364209:F569L;ENSP00000364193:F569L;ENSP00000336962:F513L;ENSP00000340290:F551L;ENSP00000364202:F484L;ENSP00000218439:F569L;ENSP00000364198:F569L;ENSP00000364200:F484L;ENSP00000379526:F569L	ENSP00000218439:F569L	F	+	3	2	MAGED2	54858726	0.181000	0.23161	0.054000	0.19295	0.251000	0.25915	-0.226000	0.09139	-0.184000	0.10567	0.513000	0.50165	TTC	MAGED2	-	NULL	ENSG00000102316		0.597	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	-	0.00	61	0	C	NM_014599		54842001	+1	tier1	-	no_errors	ENST00000218439	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.049	A
MAP2K4	6416	genome.wustl.edu	37	17	12028638	12028638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:12028638C>T	ENST00000353533.5	+	8	904	c.841C>T	c.(841-843)Cga>Tga	p.R281*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.R292*	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)|p.R281*(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AAGCGCATCACGACAAGGATA	0.418			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	14	Whole gene deletion(10)|Unknown(3)|Substitution - Nonsense(1)	breast(4)|ovary(4)|lung(2)|pancreas(2)|biliary_tract(1)|large_intestine(1)											236.0	185.0	202.0					17																	12028638		2203	4300	6503	SO:0001587	stop_gained	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.841C>T	17.37:g.12028638C>T	ENSP00000262445:p.Arg281*		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R292*	ENST00000353533.5	37	c.874	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668997	0.67814	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.1	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3994	0.55404	0.3766:0.6234:0.0:0.0	.	.	.	.	X	281;292;258;153	.	ENSP00000262445:R281X	R	+	1	2	MAP2K4	11969363	0.645000	0.27286	0.907000	0.35723	0.986000	0.74619	1.381000	0.34362	1.454000	0.47793	0.563000	0.77884	CGA	MAP2K4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065559		0.418	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	-	0.00	53	0	C			12028638	+1	tier1	-	no_errors	ENST00000415385	ensembl	human	known	74_37	nonsense	7.35	63	5	SNP	0.791	T
MAST3	23031	genome.wustl.edu	37	19	18255930	18255930	+	Missense_Mutation	SNP	G	G	A	rs375981013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:18255930G>A	ENST00000262811.6	+	23	2843	c.2843G>A	c.(2842-2844)cGg>cAg	p.R948Q	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	948							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCAGCCTGCGGCCCCCCATC	0.652																																																	0								G	GLN/ARG	0,4060		0,0,2030	82.0	89.0	86.0		2843	4.7	1.0	19		86	1,8365		0,1,4182	no	missense	MAST3	NM_015016.1	43	0,1,6212	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	948/1310	18255930	1,12425	2030	4183	6213	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2843G>A	19.37:g.18255930G>A	ENSP00000262811:p.Arg948Gln		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R948Q	ENST00000262811.6	37	c.2843	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763725	0.49574	0.0	1.2E-4	ENSG00000099308	ENST00000262811	T	0.46063	0.88	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.136067	0.46442	D	0.000282	T	0.37571	0.1008	L	0.49640	1.575	0.43292	D	0.995278	B	0.31125	0.309	B	0.21151	0.033	T	0.29822	-0.9999	10	0.45353	T	0.12	-24.4878	16.6471	0.85179	0.0:0.0:1.0:0.0	.	948	O60307	MAST3_HUMAN	Q	948	ENSP00000262811:R948Q	ENSP00000262811:R948Q	R	+	2	0	MAST3	18116930	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.122000	0.57910	2.178000	0.69098	0.313000	0.20887	CGG	MAST3	-	superfamily_PDZ	ENSG00000099308		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	-	0.00	109	0	G	XM_038150		18255930	+1	tier1	-	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	A
MAST3	23031	genome.wustl.edu	37	19	18255930	18255930	+	Missense_Mutation	SNP	G	G	A	rs375981013		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:18255930G>A	ENST00000262811.6	+	23	2843	c.2843G>A	c.(2842-2844)cGg>cAg	p.R948Q	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	948							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCAGCCTGCGGCCCCCCATC	0.652																																																	0								G	GLN/ARG	0,4060		0,0,2030	82.0	89.0	86.0		2843	4.7	1.0	19		86	1,8365		0,1,4182	no	missense	MAST3	NM_015016.1	43	0,1,6212	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	948/1310	18255930	1,12425	2030	4183	6213	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2843G>A	19.37:g.18255930G>A	ENSP00000262811:p.Arg948Gln		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R948Q	ENST00000262811.6	37	c.2843	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763725	0.49574	0.0	1.2E-4	ENSG00000099308	ENST00000262811	T	0.46063	0.88	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.136067	0.46442	D	0.000282	T	0.37571	0.1008	L	0.49640	1.575	0.43292	D	0.995278	B	0.31125	0.309	B	0.21151	0.033	T	0.29822	-0.9999	10	0.45353	T	0.12	-24.4878	16.6471	0.85179	0.0:0.0:1.0:0.0	.	948	O60307	MAST3_HUMAN	Q	948	ENSP00000262811:R948Q	ENSP00000262811:R948Q	R	+	2	0	MAST3	18116930	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.122000	0.57910	2.178000	0.69098	0.313000	0.20887	CGG	MAST3	-	superfamily_PDZ	ENSG00000099308		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	-	0.00	134	0	G	XM_038150		18255930	+1	tier1	-	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	A
MBD1	4152	genome.wustl.edu	37	18	47802019	47802019	+	Missense_Mutation	SNP	C	C	T	rs376154307		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:47802019C>T	ENST00000591416.1	-	8	1174	c.743G>A	c.(742-744)cGc>cAc	p.R248H	MBD1_ENST00000269468.5_Missense_Mutation_p.R248H|MBD1_ENST00000398495.2_Missense_Mutation_p.R248H|MBD1_ENST00000424334.2_Missense_Mutation_p.R274H|MBD1_ENST00000436910.1_Missense_Mutation_p.R248H|MBD1_ENST00000588937.1_Missense_Mutation_p.R248H|MBD1_ENST00000590208.1_Missense_Mutation_p.R248H|MBD1_ENST00000585672.1_Missense_Mutation_p.R199H|MBD1_ENST00000587605.1_Missense_Mutation_p.R248H|MBD1_ENST00000591535.1_Missense_Mutation_p.R248H|MBD1_ENST00000382948.5_Missense_Mutation_p.R248H|MBD1_ENST00000349085.2_Missense_Mutation_p.R248H|MBD1_ENST00000347968.3_Missense_Mutation_p.R248H|MBD1_ENST00000457839.2_Missense_Mutation_p.R248H|MBD1_ENST00000353909.3_Missense_Mutation_p.R199H|MBD1_ENST00000269471.5_Missense_Mutation_p.R248H|MBD1_ENST00000398493.1_Missense_Mutation_p.R248H|MBD1_ENST00000585595.1_Missense_Mutation_p.R248H|MBD1_ENST00000339998.6_Missense_Mutation_p.R248H|MBD1_ENST00000398488.1_Missense_Mutation_p.R248H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	248					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAGACCAGGGCGGGGAGGGCG	0.627																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51.0	49.0	50.0		743,743,743,743,743,596,743,743,743,743,743,743,743,596	4.6	1.0	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MBD1	NM_001204136.1,NM_001204137.1,NM_001204138.1,NM_001204139.1,NM_001204140.1,NM_001204141.1,NM_001204142.1,NM_001204143.1,NM_001204151.1,NM_002384.2,NM_015844.2,NM_015845.3,NM_015846.3,NM_015847.3	29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/656,248/631,248/630,248/606,248/575,199/568,248/551,248/536,248/537,248/504,248/550,248/587,248/606,199/557	47802019	1,13005	2203	4300	6503	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.743G>A	18.37:g.47802019C>T	ENSP00000467017:p.Arg248His		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R274H	ENST00000591416.1	37	c.821	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187953	0.78789	0.0	1.16E-4	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96104	-3.91;-3.76;-3.83;-3.91;-3.83;-3.83;-3.83;-3.79;-3.89;-3.83;-3.78;-3.83;-3.83	5.46	4.58	0.56647	Zinc finger, CXXC-type (2);	0.098131	0.41823	D	0.000806	D	0.95626	0.8578	L	0.44542	1.39	0.32877	D	0.509961	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.994;0.998;0.984;0.993;0.984;0.997;0.987;0.958;0.993;0.989;0.993;0.998	D	0.94960	0.8107	10	0.72032	D	0.01	-15.9063	7.6689	0.28447	0.0:0.8252:0.0:0.1748	.	248;274;248;248;248;248;199;248;248;248;248;248	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	H	248;199;248;248;248;248;248;274;248;248;248;248;248	ENSP00000372407:R248H;ENSP00000269469:R199H;ENSP00000342531:R248H;ENSP00000269468:R248H;ENSP00000285102:R248H;ENSP00000409561:R248H;ENSP00000269471:R248H;ENSP00000408846:R274H;ENSP00000339546:R248H;ENSP00000381508:R248H;ENSP00000405268:R248H;ENSP00000381506:R248H;ENSP00000381502:R248H	ENSP00000269468:R248H	R	-	2	0	MBD1	46056017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.630000	0.37081	2.735000	0.93741	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3		0.00	50	0	C	NM_015846		47802019	-1			no_errors	ENST00000424334	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T
MCF2L	23263	genome.wustl.edu	37	13	113699101	113699101	+	Intron	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:113699101A>G	ENST00000375608.3	+	5	426				MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397021.1_Silent_p.S21S|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000480321.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGAACCTTCAGAAGTCTTGG	0.567																																																	0													65.0	60.0	62.0					13																	113699101		876	1991	2867	SO:0001627	intron_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.369-484A>G	13.37:g.113699101A>G			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	NULL	p.S21	ENST00000375608.3	37	c.63		13																																																																																			MCF2L	-	NULL	ENSG00000126217		0.567	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	-	0.00	38	0	A			113699101	+1	tier1	-	no_errors	ENST00000397021	ensembl	human	putative	74_37	silent	6.25	60	4	SNP	0.000	G
MCF2L	23263	genome.wustl.edu	37	13	113699101	113699101	+	Intron	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:113699101A>G	ENST00000375608.3	+	5	426				MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397021.1_Silent_p.S21S|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000480321.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGAACCTTCAGAAGTCTTGG	0.567																																																	0													65.0	60.0	62.0					13																	113699101		876	1991	2867	SO:0001627	intron_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.369-484A>G	13.37:g.113699101A>G			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	NULL	p.S21	ENST00000375608.3	37	c.63		13																																																																																			MCF2L	-	NULL	ENSG00000126217		0.567	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	-	0.00	75	0	A			113699101	+1	tier1	-	no_errors	ENST00000397021	ensembl	human	putative	74_37	silent	6.25	60	4	SNP	0.000	G
MDGA1	266727	genome.wustl.edu	37	6	37618132	37618132	+	Silent	SNP	G	G	A	rs371324625		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:37618132G>A	ENST00000434837.3	-	8	2540	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R	MDGA1_ENST00000505425.1_Silent_p.R454R|MDGA1_ENST00000297153.7_Silent_p.R454R|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	454	Ig-like 5.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCGATCCCTCGCGCACGGTCA	0.687																																																	0								G		0,4150		0,0,2075	8.0	10.0	9.0		1362	-4.0	0.9	6		9	3,8309		0,3,4153	no	coding-synonymous	MDGA1	NM_153487.3		0,3,6228	AA,AG,GG		0.0361,0.0,0.0241		454/956	37618132	3,12459	2075	4156	6231	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1362C>T	6.37:g.37618132G>A			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R454	ENST00000434837.3	37	c.1362	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.687	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	71	0	G			37618132	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	5.66	100	6	SNP	0.230	A
MDGA1	266727	genome.wustl.edu	37	6	37618132	37618132	+	Silent	SNP	G	G	A	rs371324625		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:37618132G>A	ENST00000434837.3	-	8	2540	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R	MDGA1_ENST00000505425.1_Silent_p.R454R|MDGA1_ENST00000297153.7_Silent_p.R454R|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	454	Ig-like 5.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCGATCCCTCGCGCACGGTCA	0.687																																																	0								G		0,4150		0,0,2075	8.0	10.0	9.0		1362	-4.0	0.9	6		9	3,8309		0,3,4153	no	coding-synonymous	MDGA1	NM_153487.3		0,3,6228	AA,AG,GG		0.0361,0.0,0.0241		454/956	37618132	3,12459	2075	4156	6231	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1362C>T	6.37:g.37618132G>A			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R454	ENST00000434837.3	37	c.1362	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.687	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	97	0	G			37618132	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	5.66	100	6	SNP	0.230	A
MEGF8	1954	genome.wustl.edu	37	19	42874502	42874502	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:42874502C>T	ENST00000251268.6	+	39	6996	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MEGF8_ENST00000334370.4_Silent_p.D2265D|MEGF8_ENST00000378073.4_5'UTR	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2332					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTCActggacccagaggagg	0.602																																																	0													29.0	26.0	27.0					19																	42874502		2197	4289	6486	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6996C>T	19.37:g.42874502C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.D2332	ENST00000251268.6	37	c.6996		19																																																																																			MEGF8	-	smart_EG-like_dom,smart_EGF_laminin	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	50	0	C	NM_001410		42874502	+1			no_errors	ENST00000251268	ensembl	human	known	74_37	silent	12.82	34	5	SNP	1.000	T
MICALCL	84953	genome.wustl.edu	37	11	12348776	12348776	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:12348776G>T	ENST00000256186.2	+	6	1983	c.1692G>T	c.(1690-1692)caG>caT	p.Q564H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	564					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGAGATCCAGGGTGTGAGGC	0.577																																																	0													60.0	69.0	66.0					11																	12348776		2077	4107	6184	SO:0001583	missense	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1692G>T	11.37:g.12348776G>T	ENSP00000256186:p.Gln564His		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_ProQ/FinO	p.Q564H	ENST00000256186.2	37	c.1692	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595900	0.66332	.	.	ENSG00000133808	ENST00000256186	T	0.46451	0.87	5.16	2.79	0.32731	Domain of unknown function DUF3585 (1);	0.000000	0.28730	U	0.014322	T	0.53061	0.1773	M	0.67700	2.07	0.26111	N	0.980689	D	0.69078	0.997	D	0.75484	0.986	T	0.40421	-0.9564	10	0.45353	T	0.12	.	2.9703	0.05920	0.2691:0.0:0.4638:0.2671	.	564	Q6ZW33	MICLK_HUMAN	H	564	ENSP00000256186:Q564H	ENSP00000256186:Q564H	Q	+	3	2	MICALCL	12305352	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.766000	0.26560	1.243000	0.43853	0.655000	0.94253	CAG	MICALCL	-	pfam_DUF3585	ENSG00000133808		0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0.00	113	0	G	NM_032867		12348776	+1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
MICALCL	84953	genome.wustl.edu	37	11	12348776	12348776	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:12348776G>T	ENST00000256186.2	+	6	1983	c.1692G>T	c.(1690-1692)caG>caT	p.Q564H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	564					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGAGATCCAGGGTGTGAGGC	0.577																																																	0													60.0	69.0	66.0					11																	12348776		2077	4107	6184	SO:0001583	missense	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1692G>T	11.37:g.12348776G>T	ENSP00000256186:p.Gln564His		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_ProQ/FinO	p.Q564H	ENST00000256186.2	37	c.1692	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595900	0.66332	.	.	ENSG00000133808	ENST00000256186	T	0.46451	0.87	5.16	2.79	0.32731	Domain of unknown function DUF3585 (1);	0.000000	0.28730	U	0.014322	T	0.53061	0.1773	M	0.67700	2.07	0.26111	N	0.980689	D	0.69078	0.997	D	0.75484	0.986	T	0.40421	-0.9564	10	0.45353	T	0.12	.	2.9703	0.05920	0.2691:0.0:0.4638:0.2671	.	564	Q6ZW33	MICLK_HUMAN	H	564	ENSP00000256186:Q564H	ENSP00000256186:Q564H	Q	+	3	2	MICALCL	12305352	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.766000	0.26560	1.243000	0.43853	0.655000	0.94253	CAG	MICALCL	-	pfam_DUF3585	ENSG00000133808		0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0.00	77	0	G	NM_032867		12348776	+1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
MICALL2	79778	genome.wustl.edu	37	7	1498894	1498894	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:1498894G>A	ENST00000297508.7	-	1	244	c.69C>T	c.(67-69)atC>atT	p.I23I	AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_Silent_p.I23I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	23	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCATGTTGCAGATATTCACGT	0.687																																																	0													71.0	64.0	66.0					7																	1498894		2202	4299	6501	SO:0001819	synonymous_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.69C>T	7.37:g.1498894G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.I23	ENST00000297508.7	37	c.69	CCDS5324.1	7																																																																																			MICALL2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000164877		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	-	0.00	121	0	G	NM_182924		1498894	-1	tier1	-	no_errors	ENST00000297508	ensembl	human	known	74_37	silent	12.28	100	14	SNP	1.000	A
MIEF1	54471	genome.wustl.edu	37	22	39909685	39909685	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:39909685G>A	ENST00000325301.2	+	6	1173	c.749G>A	c.(748-750)cGc>cAc	p.R250H	MIEF1_ENST00000402881.1_Missense_Mutation_p.R250H|MIEF1_ENST00000404569.1_Missense_Mutation_p.R250H	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	250					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.R250H(1)									TACTGGGACCGCTGTGTAGTA	0.527																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.749G>A	22.37:g.39909685G>A	ENSP00000327124:p.Arg250His		Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.R250H	ENST00000325301.2	37	c.749	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597280	0.87055	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.08984	3.03;3.03;3.03	6.07	5.05	0.67936	.	0.043881	0.85682	N	0.000000	T	0.27205	0.0667	M	0.66297	2.02	0.80722	D	1	D;B	0.89917	1.0;0.252	D;B	0.85130	0.997;0.071	T	0.01056	-1.1466	10	0.41790	T	0.15	-19.8594	15.4926	0.75619	0.0661:0.0:0.9339:0.0	.	250;250	Q9NQG6;B0QY95	MID51_HUMAN;.	H	250	ENSP00000385110:R250H;ENSP00000327124:R250H;ENSP00000385191:R250H	ENSP00000327124:R250H	R	+	2	0	SMCR7L	38239631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.858000	0.99539	1.581000	0.49865	0.655000	0.94253	CGC	MIEF1	-	NULL	ENSG00000100335		0.527	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	HGNC	protein_coding	OTTHUMT00000321325.1	-	0.00	66	0	G	NM_019008		39909685	+1	tier1	-	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	A
HTR2C	3358	genome.wustl.edu	37	X	114058121	114058121	+	Intron	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:114058121T>G	ENST00000276198.1	+	5	1077				HTR2C_ENST00000371951.1_Intron|HTR2C_ENST00000371950.3_Intron|MIR448_ENST00000362131.1_RNA	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCCAGCCCACTTCGTCATGAC	0.478																																																	0													70.0	61.0	64.0					X																	114058121		1478	3364	4842	SO:0001627	intron_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.350-24445T>G	X.37:g.114058121T>G			B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	-	NULL	ENST00000276198.1	37	NULL	CCDS14564.1	X																																																																																			MIR448	-	-	ENSG00000199001		0.478	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR448	HGNC	protein_coding	OTTHUMT00000057962.1	-	0.00	26	0	T	NM_000868		114058121	+1	tier1	-	no_errors	ENST00000362131	ensembl	human	known	74_37	rna	16.00	21	4	SNP	0.720	G
MMP2	4313	genome.wustl.edu	37	16	55513515	55513515	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:55513515G>A	ENST00000219070.4	+	1	633	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	42					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CGGCGATGTCGCCCCCAAAAC	0.642																																																	0													32.0	30.0	31.0					16																	55513515		2198	4299	6497	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.124G>A	16.37:g.55513515G>A	ENSP00000219070:p.Ala42Thr		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A42T	ENST00000219070.4	37	c.124	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955613	0.34471	.	.	ENSG00000087245	ENST00000219070	T	0.35421	1.31	4.84	-0.221	0.13126	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.440276	0.26136	N	0.026140	T	0.15219	0.0367	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11842	-1.0571	10	0.11485	T	0.65	.	1.0555	0.01589	0.1973:0.1223:0.2511:0.4294	.	42	P08253	MMP2_HUMAN	T	42	ENSP00000219070:A42T	ENSP00000219070:A42T	A	+	1	0	MMP2	54071016	0.976000	0.34144	0.972000	0.41901	0.971000	0.66376	1.169000	0.31871	0.073000	0.16731	0.655000	0.94253	GCC	MMP2	-	superfamily_Peptidoglycan-bd-like	ENSG00000087245		0.642	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0.00	54	0	G			55513515	+1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.984	A
MMP2	4313	genome.wustl.edu	37	16	55513515	55513515	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:55513515G>A	ENST00000219070.4	+	1	633	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	42					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CGGCGATGTCGCCCCCAAAAC	0.642																																																	0													32.0	30.0	31.0					16																	55513515		2198	4299	6497	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.124G>A	16.37:g.55513515G>A	ENSP00000219070:p.Ala42Thr		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A42T	ENST00000219070.4	37	c.124	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955613	0.34471	.	.	ENSG00000087245	ENST00000219070	T	0.35421	1.31	4.84	-0.221	0.13126	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.440276	0.26136	N	0.026140	T	0.15219	0.0367	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11842	-1.0571	10	0.11485	T	0.65	.	1.0555	0.01589	0.1973:0.1223:0.2511:0.4294	.	42	P08253	MMP2_HUMAN	T	42	ENSP00000219070:A42T	ENSP00000219070:A42T	A	+	1	0	MMP2	54071016	0.976000	0.34144	0.972000	0.41901	0.971000	0.66376	1.169000	0.31871	0.073000	0.16731	0.655000	0.94253	GCC	MMP2	-	superfamily_Peptidoglycan-bd-like	ENSG00000087245		0.642	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0.00	99	0	G			55513515	+1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.984	A
MOCS2	4338	genome.wustl.edu	37	5	52404407	52404407	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:52404407G>T	ENST00000361377.4	-	2	126	c.85C>A	c.(85-87)Cct>Act	p.P29T	MOCS2_ENST00000450852.3_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000582677.1_Missense_Mutation_p.P29T|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000584946.1_Missense_Mutation_p.P29T|MOCS2_ENST00000527216.1_Missense_Mutation_p.P24T|MOCS2_ENST00000508922.1_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000510818.2_Missense_Mutation_p.P29T					molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATTTCTTGAGGCACAGAAATG	0.348																																																	0													119.0	108.0	111.0					5																	52404407		1846	4107	5953	SO:0001583	missense	0			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000361377.4:c.85C>A	5.37:g.52404407G>T	ENSP00000355160:p.Pro29Thr			Missense_Mutation	SNP	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	p.P29T	ENST00000361377.4	37	c.85	CCDS47205.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092478	0.76756	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.86	5.86	0.93980	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	T	0.80819	0.4696	.	.	.	0.28736	N	0.902245	D	0.65815	0.995	P	0.62491	0.903	T	0.76146	-0.3066	8	0.59425	D	0.04	.	13.0815	0.59117	0.0738:0.0:0.9262:0.0	.	29	O96033	MOC2A_HUMAN	T	29	ENSP00000355160:P29T;ENSP00000424267:P29T;ENSP00000411022:P29T;ENSP00000426274:P29T	ENSP00000355160:P29T	P	-	1	0	MOCS2	52440164	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.678000	0.54627	2.776000	0.95493	0.655000	0.94253	CCT	MOCS2	-	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	ENSG00000164172		0.348	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000367796.3	-	0.00	35	0	G	NM_183418		52404407	-1	tier1	-	no_errors	ENST00000361377	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
MOCS2	4338	genome.wustl.edu	37	5	52404407	52404407	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:52404407G>T	ENST00000361377.4	-	2	126	c.85C>A	c.(85-87)Cct>Act	p.P29T	MOCS2_ENST00000450852.3_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000582677.1_Missense_Mutation_p.P29T|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000584946.1_Missense_Mutation_p.P29T|MOCS2_ENST00000527216.1_Missense_Mutation_p.P24T|MOCS2_ENST00000508922.1_Missense_Mutation_p.P29T|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000510818.2_Missense_Mutation_p.P29T					molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATTTCTTGAGGCACAGAAATG	0.348																																																	0													119.0	108.0	111.0					5																	52404407		1846	4107	5953	SO:0001583	missense	0			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000361377.4:c.85C>A	5.37:g.52404407G>T	ENSP00000355160:p.Pro29Thr			Missense_Mutation	SNP	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	p.P29T	ENST00000361377.4	37	c.85	CCDS47205.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092478	0.76756	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.86	5.86	0.93980	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	T	0.80819	0.4696	.	.	.	0.28736	N	0.902245	D	0.65815	0.995	P	0.62491	0.903	T	0.76146	-0.3066	8	0.59425	D	0.04	.	13.0815	0.59117	0.0738:0.0:0.9262:0.0	.	29	O96033	MOC2A_HUMAN	T	29	ENSP00000355160:P29T;ENSP00000424267:P29T;ENSP00000411022:P29T;ENSP00000426274:P29T	ENSP00000355160:P29T	P	-	1	0	MOCS2	52440164	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.678000	0.54627	2.776000	0.95493	0.655000	0.94253	CCT	MOCS2	-	pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1	ENSG00000164172		0.348	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000367796.3	-	0.00	78	0	G	NM_183418		52404407	-1	tier1	-	no_errors	ENST00000361377	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
MROH2A	339766	genome.wustl.edu	37	2	234731078	234731078	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:234731078G>A	ENST00000389758.3	+	33	3908	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1278																	CTTCCTCCCTGACCTCATCTA	0.597																																																	0																																										SO:0001583	missense	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3742G>A	2.37:g.234731078G>A	ENSP00000374408:p.Asp1248Asn			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1248N	ENST00000389758.3	37	c.3742		2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711251	0.48517	.	.	ENSG00000185038	ENST00000389758	T	0.65364	-0.15	5.04	5.04	0.67666	.	0.143817	0.31358	U	0.007795	T	0.68760	0.3036	L	0.60455	1.87	0.33038	D	0.531025	.	.	.	.	.	.	T	0.77619	-0.2520	8	0.48119	T	0.1	.	13.8761	0.63653	0.0:0.0:1.0:0.0	.	.	.	.	N	1248	ENSP00000374408:D1248N	ENSP00000374408:D1248N	D	+	1	0	HEATR7B1	234395817	0.997000	0.39634	0.907000	0.35723	0.016000	0.09150	3.164000	0.50770	2.305000	0.77605	0.467000	0.42956	GAC	MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.597	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	50	0	G	XM_291007		234731078	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	missense	15.62	54	10	SNP	0.963	A
MROH2A	339766	genome.wustl.edu	37	2	234731078	234731078	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:234731078G>A	ENST00000389758.3	+	33	3908	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1278																	CTTCCTCCCTGACCTCATCTA	0.597																																																	0																																										SO:0001583	missense	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3742G>A	2.37:g.234731078G>A	ENSP00000374408:p.Asp1248Asn			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1248N	ENST00000389758.3	37	c.3742		2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711251	0.48517	.	.	ENSG00000185038	ENST00000389758	T	0.65364	-0.15	5.04	5.04	0.67666	.	0.143817	0.31358	U	0.007795	T	0.68760	0.3036	L	0.60455	1.87	0.33038	D	0.531025	.	.	.	.	.	.	T	0.77619	-0.2520	8	0.48119	T	0.1	.	13.8761	0.63653	0.0:0.0:1.0:0.0	.	.	.	.	N	1248	ENSP00000374408:D1248N	ENSP00000374408:D1248N	D	+	1	0	HEATR7B1	234395817	0.997000	0.39634	0.907000	0.35723	0.016000	0.09150	3.164000	0.50770	2.305000	0.77605	0.467000	0.42956	GAC	MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.597	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	70	0	G	XM_291007		234731078	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	missense	15.62	54	10	SNP	0.963	A
MT-CO1	4512	genome.wustl.edu	37	M	7323	7323	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrM:7323G>A	ENST00000361624.2	+	1	1420	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	MT-TS1_ENST00000387416.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TN_ENST00000387400.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	474					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCATGATTTGAGAAGCCTTCG	0.428																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1420G>A	M.37:g.7323G>A	ENSP00000354499:p.Glu474Lys		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.E474K	ENST00000361624.2	37	c.1420		MT																																																																																			MT-CO1	-	superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.428	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	141	0	G	YP_003024028		7323	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	56.63	36	47	SNP	NULL	A
MT-ATP6	4508	genome.wustl.edu	37	M	9099	9099	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrM:9099C>T	ENST00000361899.2	+	1	573	c.573C>T	c.(571-573)atC>atT	p.I191I	MT-ND4_ENST00000361381.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	191					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TCTACACTTATCATCTTCACA	0.453																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.573C>T	M.37:g.9099C>T			Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.I191	ENST00000361899.2	37	c.573		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.453	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		-	0.00	25	0	C	YP_003024031		9099	+1	tier1	-	no_errors	ENST00000361899	ensembl	human	known	74_37	silent	100.00	0	31	SNP	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	12991	12991	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrM:12991G>A	ENST00000361567.2	+	1	655	c.655G>A	c.(655-657)Gca>Aca	p.A219T	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	219					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GCCTCCTCCTAGCAGCAGCAG	0.532																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.655G>A	M.37:g.12991G>A	ENSP00000354813:p.Ala219Thr		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.A219T	ENST00000361567.2	37	c.655		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.532	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	42	0	G	YP_003024036		12991	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	15.38	11	2	SNP	NULL	A
MT-ND2	4536	genome.wustl.edu	37	M	2615	2615	+	5'Flank	DEL	A	A	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrM:2615delA	ENST00000361453.3	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						cacttgttccttaaataggga	0.512																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2615delA	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	DEL	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.512	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding			0.00	6520	0	A	YP_003024027		2615	+1	tier1		no_errors	ENST00000387347	ensembl	human	known	74_37	rna	17.15	1976	409	DEL	NULL	-
MT-ND5	4540	genome.wustl.edu	37	M	13113	13113	+	Silent	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrM:13113A>G	ENST00000361567.2	+	1	777	c.777A>G	c.(775-777)ttA>ttG	p.L259L	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	259					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GGAATCTTCTTACTCATCCGC	0.527																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.777A>G	M.37:g.13113A>G			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.L259	ENST00000361567.2	37	c.777		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.527	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	33	0	A	YP_003024036		13113	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	silent	20.00	8	2	SNP	NULL	G
MTMR9	66036	genome.wustl.edu	37	8	11162418	11162418	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:11162418C>T	ENST00000221086.3	+	4	959	c.486C>T	c.(484-486)gtC>gtT	p.V162V	MTMR9_ENST00000526292.1_Silent_p.V77V	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	162	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CACCAATTGTCACAGTGCCCA	0.428																																																	0													256.0	214.0	228.0					8																	11162418		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.486C>T	8.37:g.11162418C>T			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	pfam_Myotubularin-like_Pase_dom	p.V162	ENST00000221086.3	37	c.486	CCDS5979.1	8																																																																																			MTMR9	-	pfam_Myotubularin-like_Pase_dom	ENSG00000104643		0.428	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0.00	88	0	C	NM_015458		11162418	+1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	silent	23.36	105	32	SNP	0.995	T
MUC12	10071	genome.wustl.edu	37	7	100638545	100638545	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100638545G>A	ENST00000379442.3	+	5	5130	c.5130G>A	c.(5128-5130)acG>acA	p.T1710T	MUC12_ENST00000536621.1_Silent_p.T1567T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1710	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTGCCAGCACGACAAGCTCAG	0.572																																																	0													4.0	5.0	5.0					7																	100638545		634	1507	2141	SO:0001819	synonymous_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5130G>A	7.37:g.100638545G>A			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA_dom	p.T1567	ENST00000379442.3	37	c.4701		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.572	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	16	0	G	XM_379904		100638545	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	silent	29.51	43	18	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100675650	100675650	+	Missense_Mutation	SNP	C	C	T	rs527980140		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100675650C>T	ENST00000306151.4	+	3	1017	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	318	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCCTACAACGGCTGAAGGC	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23459	0.0		0.0	False		,,,				2504	0.0																0													185.0	194.0	191.0					7																	100675650		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.953C>T	7.37:g.100675650C>T	ENSP00000302716:p.Thr318Met		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T318M	ENST00000306151.4	37	c.953	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	0.985	-0.695920	0.03279	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	1.17	-1.18	0.09617	.	.	.	.	.	T	0.01254	0.0041	N	0.19112	0.55	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.47911	-0.9080	9	0.49607	T	0.09	.	1.9355	0.03336	0.264:0.3518:0.0:0.3842	.	318	Q685J3	MUC17_HUMAN	M	318	ENSP00000302716:T318M	ENSP00000302716:T318M	T	+	2	0	MUC17	100462370	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.545000	0.23268	-0.375000	0.07955	-0.549000	0.04216	ACG	MUC17	-	NULL	ENSG00000169876		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	133	0	C	NM_001040105		100675650	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	12.73	96	14	SNP	0.001	T
MUC2	4583	genome.wustl.edu	37	11	1080881	1080883	+	In_Frame_Del	DEL	ACA	ACA	-	rs201057210|rs72655304|rs113812275	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:1080881_1080883delACA	ENST00000441003.2	+	10	1292_1294	c.1265_1267delACA	c.(1264-1269)cacaac>cac	p.N423del	MUC2_ENST00000359061.5_In_Frame_Del_p.N423del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	423	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGGTGACCACAACGATTCCTA	0.631														45	0.00898562	0.0023	0.0159	5008	,	,		16768	0.0		0.0298	False		,,,				2504	0.001																0										24,3998		1,22,1988						1.5	0.8		dbSNP_130	54	259,7783		14,231,3776	no	coding	MUC2	NM_002457.2		15,253,5764	A1A1,A1R,RR		3.2206,0.5967,2.3458				283,11781				SO:0001651	inframe_deletion	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1265_1267delACA	11.37:g.1080881_1080883delACA	ENSP00000415183:p.Asn423del		Q14878	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.N423in_frame_del	ENST00000441003.2	37	c.1265_1267		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.631	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2		0.00	24	0	ACA	NM_002457		1080883	+1	tier1		no_errors	ENST00000441003	ensembl	human	known	74_37	in_frame_del	66.67	9	18	DEL	0.001:0.004:0.011	-
MYH10	4628	genome.wustl.edu	37	17	8422001	8422001	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:8422001T>G	ENST00000269243.4	-	19	2497	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	MYH10_ENST00000379980.4_Missense_Mutation_p.T803P|MYH10_ENST00000360416.3_Missense_Mutation_p.T818P|MYH10_ENST00000396239.1_Missense_Mutation_p.T808P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	787	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGATATCGGTGATTTTTAAA	0.418																																																	0													102.0	92.0	95.0					17																	8422001		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2359A>C	17.37:g.8422001T>G	ENSP00000269243:p.Thr787Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T808P	ENST00000269243.4	37	c.2422	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537357	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95137	-0.62;-0.62;-3.62;-0.62	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98548	1.0635	10	0.87932	D	0	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	796;818;787	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	787;818;808;803	ENSP00000269243:T787P;ENSP00000353590:T818P;ENSP00000379539:T808P;ENSP00000369315:T803P	ENSP00000269243:T787P	T	-	1	0	MYH10	8362726	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	ACC	MYH10	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000133026		0.418	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0.00	50	0	T			8422001	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G
MYH10	4628	genome.wustl.edu	37	17	8422001	8422001	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:8422001T>G	ENST00000269243.4	-	19	2497	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	MYH10_ENST00000379980.4_Missense_Mutation_p.T803P|MYH10_ENST00000360416.3_Missense_Mutation_p.T818P|MYH10_ENST00000396239.1_Missense_Mutation_p.T808P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	787	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGATATCGGTGATTTTTAAA	0.418																																																	0													102.0	92.0	95.0					17																	8422001		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2359A>C	17.37:g.8422001T>G	ENSP00000269243:p.Thr787Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T808P	ENST00000269243.4	37	c.2422	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537357	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95137	-0.62;-0.62;-3.62;-0.62	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98548	1.0635	10	0.87932	D	0	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	796;818;787	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	787;818;808;803	ENSP00000269243:T787P;ENSP00000353590:T818P;ENSP00000379539:T808P;ENSP00000369315:T803P	ENSP00000269243:T787P	T	-	1	0	MYH10	8362726	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	ACC	MYH10	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000133026		0.418	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0.00	75	0	T			8422001	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G
MYH3	4621	genome.wustl.edu	37	17	10533739	10533739	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:10533739C>T	ENST00000583535.1	-	37	5410	c.5323G>A	c.(5323-5325)Gac>Aac	p.D1775N	MYH3_ENST00000226209.7_Missense_Mutation_p.D1775N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1775					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCGCTGGTGTCCTGCTCCTTC	0.572																																																	0													115.0	110.0	112.0					17																	10533739		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5323G>A	17.37:g.10533739C>T	ENSP00000464317:p.Asp1775Asn		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1775N	ENST00000583535.1	37	c.5323	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.334080	0.95758	.	.	ENSG00000109063	ENST00000226209	T	0.79749	-1.3	4.65	4.65	0.58169	Myosin tail (1);	.	.	.	.	D	0.92779	0.7704	H	0.96916	3.905	0.49582	D	0.999802	D	0.59767	0.986	D	0.64237	0.923	D	0.95014	0.8154	9	0.66056	D	0.02	.	18.076	0.89427	0.0:1.0:0.0:0.0	.	1775	P11055	MYH3_HUMAN	N	1775	ENSP00000226209:D1775N	ENSP00000226209:D1775N	D	-	1	0	MYH3	10474464	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.647000	0.83462	2.561000	0.86390	0.650000	0.86243	GAC	MYH3	-	pfam_Myosin_tail	ENSG00000109063		0.572	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0.00	181	0	C	NM_002470		10533739	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	29.87	54	23	SNP	1.000	T
MYL4	4635	genome.wustl.edu	37	17	45291180	45291180	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:45291180G>A	ENST00000354968.1	+	3	279	c.151G>A	c.(151-153)Gac>Aac	p.D51N	MYL4_ENST00000572316.1_Missense_Mutation_p.D51N|MYL4_ENST00000393450.1_Missense_Mutation_p.D51N	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	51	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.			D -> E (in Ref. 2; AAA59891). {ECO:0000305}.	cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTTCACTGCCGACCAGATTGA	0.512																																																	0													203.0	174.0	184.0					17																	45291180		2203	4300	6503	SO:0001583	missense	0				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.151G>A	17.37:g.45291180G>A	ENSP00000347055:p.Asp51Asn		D3DXJ7|P11783	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D51N	ENST00000354968.1	37	c.151	CCDS11510.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409851	0.83340	.	.	ENSG00000198336	ENST00000354968;ENST00000393450;ENST00000536623	T;T	0.80393	-1.37;-1.37	5.39	5.39	0.77823	EF-hand-like domain (1);	0.191571	0.46442	D	0.000282	T	0.79902	0.4526	M	0.77406	2.37	0.58432	D	0.999997	P	0.36010	0.532	B	0.30782	0.12	T	0.82697	-0.0329	10	0.87932	D	0	-42.8711	14.9999	0.71464	0.0:0.0:1.0:0.0	.	51	P12829	MYL4_HUMAN	N	51;51;36	ENSP00000347055:D51N;ENSP00000377096:D51N	ENSP00000347055:D51N	D	+	1	0	MYL4	42646179	1.000000	0.71417	0.973000	0.42090	0.459000	0.32528	5.169000	0.64984	2.675000	0.91044	0.609000	0.83330	GAC	MYL4	-	NULL	ENSG00000198336		0.512	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL4	HGNC	protein_coding	OTTHUMT00000441059.1	-	0.00	54	0	G	NM_001002841		45291180	+1	tier1	-	no_errors	ENST00000354968	ensembl	human	known	74_37	missense	11.54	69	9	SNP	0.998	A
MYL4	4635	genome.wustl.edu	37	17	45291180	45291180	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:45291180G>A	ENST00000354968.1	+	3	279	c.151G>A	c.(151-153)Gac>Aac	p.D51N	MYL4_ENST00000572316.1_Missense_Mutation_p.D51N|MYL4_ENST00000393450.1_Missense_Mutation_p.D51N	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	51	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.			D -> E (in Ref. 2; AAA59891). {ECO:0000305}.	cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTTCACTGCCGACCAGATTGA	0.512																																																	0													203.0	174.0	184.0					17																	45291180		2203	4300	6503	SO:0001583	missense	0				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.151G>A	17.37:g.45291180G>A	ENSP00000347055:p.Asp51Asn		D3DXJ7|P11783	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D51N	ENST00000354968.1	37	c.151	CCDS11510.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409851	0.83340	.	.	ENSG00000198336	ENST00000354968;ENST00000393450;ENST00000536623	T;T	0.80393	-1.37;-1.37	5.39	5.39	0.77823	EF-hand-like domain (1);	0.191571	0.46442	D	0.000282	T	0.79902	0.4526	M	0.77406	2.37	0.58432	D	0.999997	P	0.36010	0.532	B	0.30782	0.12	T	0.82697	-0.0329	10	0.87932	D	0	-42.8711	14.9999	0.71464	0.0:0.0:1.0:0.0	.	51	P12829	MYL4_HUMAN	N	51;51;36	ENSP00000347055:D51N;ENSP00000377096:D51N	ENSP00000347055:D51N	D	+	1	0	MYL4	42646179	1.000000	0.71417	0.973000	0.42090	0.459000	0.32528	5.169000	0.64984	2.675000	0.91044	0.609000	0.83330	GAC	MYL4	-	NULL	ENSG00000198336		0.512	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL4	HGNC	protein_coding	OTTHUMT00000441059.1	-	0.00	81	0	G	NM_001002841		45291180	+1	tier1	-	no_errors	ENST00000354968	ensembl	human	known	74_37	missense	11.54	69	9	SNP	0.998	A
MYO16	23026	genome.wustl.edu	37	13	109779715	109779715	+	Missense_Mutation	SNP	G	G	A	rs377315850		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:109779715G>A	ENST00000357550.2	+	30	3843	c.3802G>A	c.(3802-3804)Gtt>Att	p.V1268I	MYO16_ENST00000356711.2_Missense_Mutation_p.V1268I|MYO16_ENST00000457511.2_Missense_Mutation_p.V780I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGTGCCTCGTTGGCCCGTC	0.617																																																	0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	54.0	45.0	48.0		3868,3802	-1.1	0.0	13		48	0,8600		0,0,4300	no	missense,missense	MYO16	NM_001198950.1,NM_015011.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1290/1881,1268/1859	109779715	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3802G>A	13.37:g.109779715G>A	ENSP00000350160:p.Val1268Ile			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1268I	ENST00000357550.2	37	c.3802	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566586	0.03910	2.27E-4	0.0	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42513	0.97;0.97;0.97	5.38	-1.06	0.10002	.	0.395784	0.17897	U	0.158325	T	0.13286	0.0322	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15178	-1.0446	9	.	.	.	.	1.8286	0.03125	0.2184:0.2486:0.4054:0.1276	.	780;1268	F8W883;Q9Y6X6	.;MYO16_HUMAN	I	1268;1268;780	ENSP00000349145:V1268I;ENSP00000350160:V1268I;ENSP00000401633:V780I	.	V	+	1	0	MYO16	108577716	0.093000	0.21703	0.000000	0.03702	0.049000	0.14656	0.363000	0.20301	-0.253000	0.09514	-0.244000	0.11960	GTT	MYO16	-	NULL	ENSG00000041515		0.617	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	100	0	G	NM_015011		109779715	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	13.64	76	12	SNP	0.001	A
MYO16	23026	genome.wustl.edu	37	13	109779715	109779715	+	Missense_Mutation	SNP	G	G	A	rs377315850		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:109779715G>A	ENST00000357550.2	+	30	3843	c.3802G>A	c.(3802-3804)Gtt>Att	p.V1268I	MYO16_ENST00000356711.2_Missense_Mutation_p.V1268I|MYO16_ENST00000457511.2_Missense_Mutation_p.V780I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGTGCCTCGTTGGCCCGTC	0.617																																																	0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	54.0	45.0	48.0		3868,3802	-1.1	0.0	13		48	0,8600		0,0,4300	no	missense,missense	MYO16	NM_001198950.1,NM_015011.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1290/1881,1268/1859	109779715	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3802G>A	13.37:g.109779715G>A	ENSP00000350160:p.Val1268Ile			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1268I	ENST00000357550.2	37	c.3802	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566586	0.03910	2.27E-4	0.0	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42513	0.97;0.97;0.97	5.38	-1.06	0.10002	.	0.395784	0.17897	U	0.158325	T	0.13286	0.0322	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15178	-1.0446	9	.	.	.	.	1.8286	0.03125	0.2184:0.2486:0.4054:0.1276	.	780;1268	F8W883;Q9Y6X6	.;MYO16_HUMAN	I	1268;1268;780	ENSP00000349145:V1268I;ENSP00000350160:V1268I;ENSP00000401633:V780I	.	V	+	1	0	MYO16	108577716	0.093000	0.21703	0.000000	0.03702	0.049000	0.14656	0.363000	0.20301	-0.253000	0.09514	-0.244000	0.11960	GTT	MYO16	-	NULL	ENSG00000041515		0.617	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	103	0	G	NM_015011		109779715	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	13.64	76	12	SNP	0.001	A
MYO7B	4648	genome.wustl.edu	37	2	128364959	128364959	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128364959G>T	ENST00000409816.2	+	20	2635	c.2603G>T	c.(2602-2604)gGc>gTc	p.G868V	MYO7B_ENST00000428314.1_Missense_Mutation_p.G868V|MYO7B_ENST00000389524.4_Missense_Mutation_p.G868V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	868	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATGCCAGGGGCATGGCTGCC	0.662																																																	0													14.0	20.0	18.0					2																	128364959		1885	3834	5719	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2603G>T	2.37:g.128364959G>T	ENSP00000386461:p.Gly868Val		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G868V	ENST00000409816.2	37	c.2603	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111120	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.46063	0.88;0.88;0.88	5.6	4.71	0.59529	.	0.060596	0.64402	D	0.000004	T	0.72748	0.3499	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79505	-0.1776	10	0.44086	T	0.13	.	15.8265	0.78711	0.0:0.0:0.8629:0.1371	.	868	Q6PIF6	MYO7B_HUMAN	V	868	ENSP00000374175:G868V;ENSP00000415090:G868V;ENSP00000386461:G868V	ENSP00000374175:G868V	G	+	2	0	MYO7B	128081429	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.381000	0.97205	1.341000	0.45600	-0.311000	0.09066	GGC	MYO7B	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000169994		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0.00	100	0	G	XM_291001		128364959	+1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	13.51	63	10	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128364959	128364959	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128364959G>T	ENST00000409816.2	+	20	2635	c.2603G>T	c.(2602-2604)gGc>gTc	p.G868V	MYO7B_ENST00000428314.1_Missense_Mutation_p.G868V|MYO7B_ENST00000389524.4_Missense_Mutation_p.G868V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	868	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATGCCAGGGGCATGGCTGCC	0.662																																																	0													14.0	20.0	18.0					2																	128364959		1885	3834	5719	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2603G>T	2.37:g.128364959G>T	ENSP00000386461:p.Gly868Val		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G868V	ENST00000409816.2	37	c.2603	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111120	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.46063	0.88;0.88;0.88	5.6	4.71	0.59529	.	0.060596	0.64402	D	0.000004	T	0.72748	0.3499	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79505	-0.1776	10	0.44086	T	0.13	.	15.8265	0.78711	0.0:0.0:0.8629:0.1371	.	868	Q6PIF6	MYO7B_HUMAN	V	868	ENSP00000374175:G868V;ENSP00000415090:G868V;ENSP00000386461:G868V	ENSP00000374175:G868V	G	+	2	0	MYO7B	128081429	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.381000	0.97205	1.341000	0.45600	-0.311000	0.09066	GGC	MYO7B	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000169994		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0.00	90	0	G	XM_291001		128364959	+1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	13.51	63	10	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12656531	12656531	+	Silent	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:12656531T>C	ENST00000343344.4	+	10	1926	c.1926T>C	c.(1924-1926)gcT>gcC	p.A642A	MYOCD_ENST00000425538.1_Silent_p.A642A|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.A546A			Q8IZQ8	MYCD_HUMAN	myocardin	642					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGGGGGCTGTGAAAAGCC	0.552																																																	0													93.0	98.0	96.0					17																	12656531		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1926T>C	17.37:g.12656531T>C			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.A642	ENST00000343344.4	37	c.1926	CCDS11163.1	17																																																																																			MYOCD	-	NULL	ENSG00000141052		0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0.00	37	0	T	NM_153604		12656531	+1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.000	C
MYOCD	93649	genome.wustl.edu	37	17	12656531	12656531	+	Silent	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:12656531T>C	ENST00000343344.4	+	10	1926	c.1926T>C	c.(1924-1926)gcT>gcC	p.A642A	MYOCD_ENST00000425538.1_Silent_p.A642A|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.A546A			Q8IZQ8	MYCD_HUMAN	myocardin	642					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGGGGGCTGTGAAAAGCC	0.552																																																	0													93.0	98.0	96.0					17																	12656531		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1926T>C	17.37:g.12656531T>C			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.A642	ENST00000343344.4	37	c.1926	CCDS11163.1	17																																																																																			MYOCD	-	NULL	ENSG00000141052		0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0.00	43	0	T	NM_153604		12656531	+1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.000	C
NAP1L1	4673	genome.wustl.edu	37	12	76448798	76448798	+	Splice_Site	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:76448798C>T	ENST00000261182.8	-	8	1117		c.e8+1		NAP1L1_ENST00000549596.1_Splice_Site|NAP1L1_ENST00000535020.2_Splice_Site|NAP1L1_ENST00000431879.3_Splice_Site|NAP1L1_ENST00000547773.1_Splice_Site|NAP1L1_ENST00000547993.1_Splice_Site|NAP1L1_ENST00000548044.1_Splice_Site|NAP1L1_ENST00000542344.1_Splice_Site|NAP1L1_ENST00000393263.3_Splice_Site|NAP1L1_ENST00000552342.1_Splice_Site|NAP1L1_ENST00000544816.1_Splice_Site	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1						DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AGTTCTTTTACCATAGGCTGG	0.303																																																	0													53.0	54.0	54.0					12																	76448798		2202	4297	6499	SO:0001630	splice_region_variant	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.630+1G>A	12.37:g.76448798C>T			B3KNT8	Splice_Site	SNP	-	e7+1	ENST00000261182.8	37	c.630+1	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231901	0.79688	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2054	0.93728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAP1L1	74735065	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.776000	0.85560	2.634000	0.89283	0.650000	0.86243	.	NAP1L1	-	-	ENSG00000187109		0.303	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	-	0.00	12	0	C	NM_139207	Intron	76448798	-1	tier1	-	no_errors	ENST00000261182	ensembl	human	known	74_37	splice_site	31.03	20	9	SNP	1.000	T
NAP1L1	4673	genome.wustl.edu	37	12	76448798	76448798	+	Splice_Site	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:76448798C>T	ENST00000261182.8	-	8	1117		c.e8+1		NAP1L1_ENST00000549596.1_Splice_Site|NAP1L1_ENST00000535020.2_Splice_Site|NAP1L1_ENST00000431879.3_Splice_Site|NAP1L1_ENST00000547773.1_Splice_Site|NAP1L1_ENST00000547993.1_Splice_Site|NAP1L1_ENST00000548044.1_Splice_Site|NAP1L1_ENST00000542344.1_Splice_Site|NAP1L1_ENST00000393263.3_Splice_Site|NAP1L1_ENST00000552342.1_Splice_Site|NAP1L1_ENST00000544816.1_Splice_Site	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1						DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AGTTCTTTTACCATAGGCTGG	0.303																																																	0													53.0	54.0	54.0					12																	76448798		2202	4297	6499	SO:0001630	splice_region_variant	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.630+1G>A	12.37:g.76448798C>T			B3KNT8	Splice_Site	SNP	-	e7+1	ENST00000261182.8	37	c.630+1	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231901	0.79688	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2054	0.93728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAP1L1	74735065	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.776000	0.85560	2.634000	0.89283	0.650000	0.86243	.	NAP1L1	-	-	ENSG00000187109		0.303	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	-	0.00	25	0	C	NM_139207	Intron	76448798	-1	tier1	-	no_errors	ENST00000261182	ensembl	human	known	74_37	splice_site	31.03	20	9	SNP	1.000	T
NAP1L3	4675	genome.wustl.edu	37	X	92926799	92926799	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:92926799T>C	ENST00000373079.3	-	1	1768	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K495R	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGTATTTCTTGTTTCCATA	0.318																																																	0													64.0	57.0	59.0					X																	92926799		2202	4298	6500	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1505A>G	X.37:g.92926799T>C	ENSP00000362171:p.Lys502Arg		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.K502R	ENST00000373079.3	37	c.1505	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.616570	0.00007	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.28454	1.61	3.54	0.78	0.18556	.	0.186806	0.44285	N	0.000462	T	0.06962	0.0177	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39035	-0.9633	10	0.02654	T	1	.	6.1562	0.20338	0.0:0.5045:0.0:0.4955	.	502	Q99457	NP1L3_HUMAN	R	502;495	ENSP00000362171:K502R	ENSP00000362171:K502R	K	-	2	0	NAP1L3	92813455	0.014000	0.17966	0.000000	0.03702	0.042000	0.13812	0.203000	0.17315	0.041000	0.15688	-1.204000	0.01649	AAG	NAP1L3	-	NULL	ENSG00000186310		0.318	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0.00	23	0	T	NM_004538		92926799	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.003	C
NEO1	4756	genome.wustl.edu	37	15	73590936	73590936	+	Silent	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:73590936A>C	ENST00000339362.5	+	28	4596	c.4149A>C	c.(4147-4149)ccA>ccC	p.P1383P	NEO1_ENST00000560262.1_Silent_p.P1330P|NEO1_ENST00000261908.6_Silent_p.P1383P|NEO1_ENST00000558964.1_Silent_p.P1372P			Q92859	NEO1_HUMAN	neogenin 1	1383					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CAAGCACACCATTACTGTCCC	0.587																																																	0													79.0	67.0	71.0					15																	73590936		2198	4297	6495	SO:0001819	synonymous_variant	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4149A>C	15.37:g.73590936A>C			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1383	ENST00000339362.5	37	c.4149	CCDS10247.1	15																																																																																			NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.587	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	40	0	A	NM_002499		73590936	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.096	C
NFE2L3	9603	genome.wustl.edu	37	7	26225093	26225093	+	Missense_Mutation	SNP	C	C	T	rs374797223		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:26225093C>T	ENST00000056233.3	+	4	2034	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	592	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A592V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AAAGTTGCTGCGCAGAACTGT	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	57.0		1775	5.7	1.0	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NFE2L3	NM_004289.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	592/695	26225093	2,13004	2203	4300	6503	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1775C>T	7.37:g.26225093C>T	ENSP00000056233:p.Ala592Val		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.A592V	ENST00000056233.3	37	c.1775	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.199424	0.94997	2.27E-4	1.16E-4	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.95342	-3.68	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98662	1.0684	10	0.87932	D	0	-15.3902	19.4639	0.94931	0.0:1.0:0.0:0.0	.	592	Q9Y4A8	NF2L3_HUMAN	V	592;297	ENSP00000056233:A592V	ENSP00000056233:A592V	A	+	2	0	NFE2L3	26191618	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.070000	0.71220	2.703000	0.92315	0.591000	0.81541	GCG	NFE2L3	-	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000050344		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0.00	126	0	C			26225093	+1	tier1	-	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	6.67	98	7	SNP	1.000	T
NFYC	4802	genome.wustl.edu	37	1	41236499	41236499	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:41236499G>A	ENST00000308733.5	+	10	1382	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	NFYC_ENST00000372654.1_Silent_p.*336*|NFYC_ENST00000456393.2_Silent_p.*335*|NFYC_ENST00000372653.1_Silent_p.*302*|NFYC_ENST00000425457.2_Silent_p.*355*|NFYC_ENST00000440226.3_Silent_p.*336*|NFYC_ENST00000372652.1_Silent_p.*440*|NFYC_ENST00000447388.3_Silent_p.*336*|NFYC_ENST00000427410.2_Silent_p.*298*|NFYC_ENST00000372651.1_Silent_p.*336*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	0					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCGGCGACTGAGGGCCTGAG	0.657																																																	0													44.0	44.0	44.0					1																	41236499		2203	4299	6502	SO:0001819	synonymous_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1376G>A	1.37:g.41236499G>A			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.*459	ENST00000308733.5	37	c.1376		1																																																																																			NFYC	-	NULL	ENSG00000066136		0.657	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	-	0.00	87	0	G	NM_014223		41236499	+1	tier1	-	no_errors	ENST00000308733	ensembl	human	known	74_37	silent	13.24	59	9	SNP	1.000	A
NFYC	4802	genome.wustl.edu	37	1	41236499	41236499	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:41236499G>A	ENST00000308733.5	+	10	1382	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	NFYC_ENST00000372654.1_Silent_p.*336*|NFYC_ENST00000456393.2_Silent_p.*335*|NFYC_ENST00000372653.1_Silent_p.*302*|NFYC_ENST00000425457.2_Silent_p.*355*|NFYC_ENST00000440226.3_Silent_p.*336*|NFYC_ENST00000372652.1_Silent_p.*440*|NFYC_ENST00000447388.3_Silent_p.*336*|NFYC_ENST00000427410.2_Silent_p.*298*|NFYC_ENST00000372651.1_Silent_p.*336*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	0					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCGGCGACTGAGGGCCTGAG	0.657																																																	0													44.0	44.0	44.0					1																	41236499		2203	4299	6502	SO:0001819	synonymous_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1376G>A	1.37:g.41236499G>A			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.*459	ENST00000308733.5	37	c.1376		1																																																																																			NFYC	-	NULL	ENSG00000066136		0.657	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	-	0.00	91	0	G	NM_014223		41236499	+1	tier1	-	no_errors	ENST00000308733	ensembl	human	known	74_37	silent	13.24	59	9	SNP	1.000	A
NKAPL	222698	genome.wustl.edu	37	6	28227442	28227442	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:28227442G>A	ENST00000343684.3	+	1	345	c.293G>A	c.(292-294)cGt>cAt	p.R98H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	98								p.R98H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTACCATCGTCACTGCTAT	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											62.0	62.0	62.0					6																	28227442		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.293G>A	6.37:g.28227442G>A	ENSP00000345716:p.Arg98His		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.R98H	ENST00000343684.3	37	c.293	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.124	0.208527	0.09757	.	.	ENSG00000189134	ENST00000343684	T	0.14893	2.47	4.13	1.63	0.23807	.	0.822182	0.10356	N	0.684591	T	0.01592	0.0051	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.27082	T	0.32	-2.1284	4.4533	0.11631	0.6962:0.1979:0.1059:0.0	.	98	Q5M9Q1	NKAPL_HUMAN	H	98	ENSP00000345716:R98H	ENSP00000345716:R98H	R	+	2	0	NKAPL	28335421	0.000000	0.05858	0.241000	0.24154	0.017000	0.09413	0.251000	0.18257	0.231000	0.21079	-0.294000	0.09567	CGT	NKAPL	-	NULL	ENSG00000189134		0.572	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0.00	37	0	G			28227442	+1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.293	A
NKAPL	222698	genome.wustl.edu	37	6	28227442	28227442	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:28227442G>A	ENST00000343684.3	+	1	345	c.293G>A	c.(292-294)cGt>cAt	p.R98H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	98								p.R98H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTACCATCGTCACTGCTAT	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											62.0	62.0	62.0					6																	28227442		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.293G>A	6.37:g.28227442G>A	ENSP00000345716:p.Arg98His		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.R98H	ENST00000343684.3	37	c.293	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.124	0.208527	0.09757	.	.	ENSG00000189134	ENST00000343684	T	0.14893	2.47	4.13	1.63	0.23807	.	0.822182	0.10356	N	0.684591	T	0.01592	0.0051	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.27082	T	0.32	-2.1284	4.4533	0.11631	0.6962:0.1979:0.1059:0.0	.	98	Q5M9Q1	NKAPL_HUMAN	H	98	ENSP00000345716:R98H	ENSP00000345716:R98H	R	+	2	0	NKAPL	28335421	0.000000	0.05858	0.241000	0.24154	0.017000	0.09413	0.251000	0.18257	0.231000	0.21079	-0.294000	0.09567	CGT	NKAPL	-	NULL	ENSG00000189134		0.572	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0.00	40	0	G			28227442	+1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.293	A
NKAIN2	154215	genome.wustl.edu	37	6	125139618	125139618	+	Intron	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:125139618A>C	ENST00000368417.1	+	6	677				NKAIN2_ENST00000546092.1_Nonstop_Mutation_p.*140Y|NKAIN2_ENST00000545433.1_Nonstop_Mutation_p.*192Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGTACATGTAAGTATTTTACT	0.368																																																	0													106.0	96.0	100.0					6																	125139618		2203	4299	6502	SO:0001627	intron_variant	0			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.617+4A>C	6.37:g.125139618A>C			Q8IYR4|Q8TF67	Nonstop_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.*192Y	ENST00000368417.1	37	c.576	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	A	35	5.438462	0.96168	.	.	ENSG00000188580	ENST00000546092;ENST00000545433	.	.	.	6.17	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.21719	N	0.999579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7907	0.57533	0.8771:0.0:0.0:0.1229	.	.	.	.	Y	140;192	.	.	X	+	3	2	NKAIN2	125181317	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.896000	0.92521	1.119000	0.41883	0.533000	0.62120	TAA	NKAIN2	-	NULL	ENSG00000188580		0.368	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	-	0.00	42	0	A	NM_001040214		125139618	+1	tier1	-	no_errors	ENST00000545433	ensembl	human	known	74_37	nonstop	7.25	64	5	SNP	1.000	C
NLK	51701	genome.wustl.edu	37	17	26495561	26495561	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:26495561C>T	ENST00000407008.3	+	6	1643	c.925C>T	c.(925-927)Cca>Tca	p.P309S		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTATCGGGCTCCAGAAATCCT	0.418																																																	0													171.0	172.0	172.0					17																	26495561		2203	4300	6503	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.925C>T	17.37:g.26495561C>T	ENSP00000384625:p.Pro309Ser		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P309S	ENST00000407008.3	37	c.925	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	C	31	5.094750	0.94197	.	.	ENSG00000087095	ENST00000407008	D	0.82803	-1.65	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94866	0.8026	10	0.87932	D	0	-19.6892	19.4443	0.94840	0.0:1.0:0.0:0.0	.	309	Q9UBE8	NLK_HUMAN	S	309	ENSP00000384625:P309S	ENSP00000384625:P309S	P	+	1	0	NLK	23519688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.847000	0.97988	0.591000	0.81541	CCA	NLK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000087095		0.418	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	-	0.00	74	0	C	NM_016231		26495561	+1	tier1	-	no_errors	ENST00000407008	ensembl	human	known	74_37	missense	8.91	92	9	SNP	1.000	T
NLRC4	58484	genome.wustl.edu	37	2	32476285	32476285	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:32476285G>A	ENST00000404025.2	-	5	1136	c.648C>T	c.(646-648)ctC>ctT	p.L216L	NLRC4_ENST00000360906.5_Silent_p.L216L|NLRC4_ENST00000402280.1_Silent_p.L216L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	216	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTTGATCACAGAGGGTTTCAA	0.527																																																	0													66.0	71.0	69.0					2																	32476285		2203	4300	6503	SO:0001819	synonymous_variant	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.648C>T	2.37:g.32476285G>A			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.L216	ENST00000404025.2	37	c.648	CCDS33174.1	2																																																																																			NLRC4	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000091106		0.527	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0.00	69	0	G	NM_021209		32476285	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	silent	13.16	66	10	SNP	0.839	A
NLRP7	199713	genome.wustl.edu	37	19	55450857	55450857	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:55450857C>T	ENST00000590030.1	-	3	1370	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	NLRP7_ENST00000588756.1_Missense_Mutation_p.D444N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D444N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D444N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D472N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D444N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D444N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	444	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.D444N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGACGGAGGTCGGACTCCTGC	0.642																																																	2	Substitution - Missense(2)	endometrium(2)											37.0	33.0	35.0					19																	55450857		2203	4300	6503	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1330G>A	19.37:g.55450857C>T	ENSP00000465520:p.Asp444Asn		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D472N	ENST00000590030.1	37	c.1414	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537627	0.45176	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.75938	-0.9;-0.9;-0.98;-0.94	1.92	0.872	0.19113	.	0.778678	0.10493	N	0.668237	T	0.65678	0.2714	L	0.58354	1.805	0.09310	N	1	P;P;P;P	0.50617	0.895;0.895;0.895;0.937	B;B;B;B	0.41646	0.198;0.198;0.198;0.362	T	0.56829	-0.7914	10	0.48119	T	0.1	.	4.0991	0.10005	0.0:0.7873:0.0:0.2127	.	472;444;444;444	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	444;444;444;472;211	ENSP00000329568:D444N;ENSP00000409137:D444N;ENSP00000339491:D444N;ENSP00000414273:D472N	ENSP00000329568:D444N	D	-	1	0	NLRP7	60142669	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	0.491000	0.22419	0.369000	0.24510	0.462000	0.41574	GAC	NLRP7	-	NULL	ENSG00000167634		0.642	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0.00	55	0	C	NM_139176		55450857	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	missense	11.67	53	7	SNP	0.000	T
NOD2	64127	genome.wustl.edu	37	16	50745399	50745399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:50745399delC	ENST00000300589.2	+	4	1682	c.1577delC	c.(1576-1578)accfs	p.T526fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGCATGCCACCCCCCCAGAC	0.617																																																	0													46.0	50.0	49.0					16																	50745399		2198	4299	6497	SO:0001589	frameshift_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1577delC	16.37:g.50745399delC	ENSP00000300589:p.Thr526fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P528fs	ENST00000300589.2	37	c.1577	CCDS10746.1	16																																																																																			NOD2	-	NULL	ENSG00000167207		0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0.00	18	0	C	NM_022162		50745399	+1	tier1		no_errors	ENST00000300589	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.928	-
NODAL	4838	genome.wustl.edu	37	10	72195386	72195386	+	Missense_Mutation	SNP	G	G	A	rs201258671		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:72195386G>A	ENST00000287139.3	-	2	546	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	AC022532.1_ENST00000420338.2_Silent_p.P111P	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	183			R -> Q (in HTX5; dbSNP:rs104894169). {ECO:0000269|PubMed:9354794}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GTGGGGGGCCGCGGCCAGCAC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17473	0.0		0.001	False		,,,				2504	0.0																0													30.0	32.0	32.0					10																	72195386		2203	4300	6503	SO:0001583	missense	0			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.547C>T	10.37:g.72195386G>A	ENSP00000287139:p.Arg183Trp		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R183W	ENST00000287139.3	37	c.547	CCDS7304.1	10	10	0.004578754578754579	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	6	0.0079155672823219	G	10.31	1.314884	0.23908	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.85171	-1.95;-1.93	5.88	4.98	0.66077	.	0.620051	0.16185	N	0.225677	T	0.64125	0.2570	N	0.24115	0.695	0.09310	N	1	D	0.56968	0.978	B	0.32805	0.153	T	0.64011	-0.6507	10	0.72032	D	0.01	.	10.1321	0.42685	0.1541:0.0:0.8459:0.0	.	183	Q96S42	NODAL_HUMAN	W	183;128	ENSP00000287139:R183W;ENSP00000394468:R128W	ENSP00000287139:R183W	R	-	1	2	NODAL	71865392	0.093000	0.21703	0.007000	0.13788	0.019000	0.09904	0.923000	0.28757	1.485000	0.48380	0.655000	0.94253	CGG	NODAL	-	NULL	ENSG00000156574		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1		0.00	53	0	G	NM_018055		72195386	-1			no_errors	ENST00000287139	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.001	A
NPR1	4881	genome.wustl.edu	37	1	153661440	153661440	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:153661440G>T	ENST00000368680.3	+	16	2901	c.2429G>T	c.(2428-2430)aGc>aTc	p.S810I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	810					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGAACAGCAGCAACATCCTG	0.642																																					Pancreas(141;1349 1870 15144 15830 40702)												0													102.0	90.0	94.0					1																	153661440		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2429G>T	1.37:g.153661440G>T	ENSP00000357669:p.Ser810Ile		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.S810I	ENST00000368680.3	37	c.2429	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536123	0.45176	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62232	0.04	3.35	3.35	0.38373	Protein kinase-like domain (1);	0.461027	0.21747	N	0.069735	T	0.38374	0.1038	L	0.52266	1.64	0.80722	D	1	B;B	0.32543	0.375;0.066	B;B	0.31869	0.137;0.029	T	0.42207	-0.9465	10	0.38643	T	0.18	.	8.8433	0.35155	0.0:0.2308:0.7692:0.0	.	289;810	B7Z4Y7;P16066	.;ANPRA_HUMAN	I	810;289	ENSP00000357669:S810I	ENSP00000357669:S810I	S	+	2	0	NPR1	151928064	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.043000	0.30316	2.170000	0.68504	0.455000	0.32223	AGC	NPR1	-	superfamily_Kinase-like_dom	ENSG00000169418		0.642	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0.00	74	0	G	NM_000906		153661440	+1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
NPY4R	5540	genome.wustl.edu	37	10	47087562	47087562	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:47087562T>C	ENST00000395716.1	+	2	864	c.779T>C	c.(778-780)aTg>aCg	p.M260T	NPY4R_ENST00000374312.1_Missense_Mutation_p.M260T			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	260					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCTGGGCACATGAAGCAGGTC	0.592																																																	0													159.0	114.0	129.0					10																	47087562		2203	4300	6503	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.779T>C	10.37:g.47087562T>C	ENSP00000379066:p.Met260Thr		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.M260T	ENST00000395716.1	37	c.779	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.733269	0.00687	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.71103	-0.54;-0.54	5.18	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.398244	0.28230	N	0.016112	T	0.50888	0.1642	L	0.27053	0.805	0.30216	N	0.797221	B	0.15930	0.015	B	0.19666	0.026	T	0.40608	-0.9554	10	0.13470	T	0.59	.	5.3189	0.15870	0.0:0.0974:0.1761:0.7265	.	260	P50391	NPY4R_HUMAN	T	260	ENSP00000363431:M260T;ENSP00000379066:M260T	ENSP00000363431:M260T	M	+	2	0	PPYR1	46507568	0.992000	0.36948	0.988000	0.46212	0.072000	0.16883	0.995000	0.29706	0.929000	0.37192	0.533000	0.62120	ATG	NPY4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt	ENSG00000204174		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	HGNC	protein_coding	OTTHUMT00000047837.1	-	0.00	49	0	T			47087562	+1	tier1	-	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.954	C
NPY4R	5540	genome.wustl.edu	37	10	47087562	47087562	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:47087562T>C	ENST00000395716.1	+	2	864	c.779T>C	c.(778-780)aTg>aCg	p.M260T	NPY4R_ENST00000374312.1_Missense_Mutation_p.M260T			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	260					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCTGGGCACATGAAGCAGGTC	0.592																																																	0													159.0	114.0	129.0					10																	47087562		2203	4300	6503	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.779T>C	10.37:g.47087562T>C	ENSP00000379066:p.Met260Thr		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.M260T	ENST00000395716.1	37	c.779	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.733269	0.00687	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.71103	-0.54;-0.54	5.18	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.398244	0.28230	N	0.016112	T	0.50888	0.1642	L	0.27053	0.805	0.30216	N	0.797221	B	0.15930	0.015	B	0.19666	0.026	T	0.40608	-0.9554	10	0.13470	T	0.59	.	5.3189	0.15870	0.0:0.0974:0.1761:0.7265	.	260	P50391	NPY4R_HUMAN	T	260	ENSP00000363431:M260T;ENSP00000379066:M260T	ENSP00000363431:M260T	M	+	2	0	PPYR1	46507568	0.992000	0.36948	0.988000	0.46212	0.072000	0.16883	0.995000	0.29706	0.929000	0.37192	0.533000	0.62120	ATG	NPY4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt	ENSG00000204174		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	HGNC	protein_coding	OTTHUMT00000047837.1	-	0.00	66	0	T			47087562	+1	tier1	-	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.954	C
NRXN1	9378	genome.wustl.edu	37	2	50147566	50147566	+	3'UTR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:50147566T>G	ENST00000406316.2	-	0	7426				NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAACCAATTTTGCTTCCATA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1516A>C	2.37:g.50147566T>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	SNP	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			NRXN1	-	-	ENSG00000179915		0.323	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	41	0	T			50147566	-1	tier1	-	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	24.29	51	17	SNP	0.996	G
NRXN1	9378	genome.wustl.edu	37	2	50147566	50147566	+	3'UTR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:50147566T>G	ENST00000406316.2	-	0	7426				NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAACCAATTTTGCTTCCATA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1516A>C	2.37:g.50147566T>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	SNP	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			NRXN1	-	-	ENSG00000179915		0.323	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	57	0	T			50147566	-1	tier1	-	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	24.29	51	17	SNP	0.996	G
NTM	50863	genome.wustl.edu	37	11	132205624	132205624	+	3'UTR	DEL	T	T	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:132205624delT	ENST00000374786.1	+	0	2098				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACCGTTAAACTTTTTTTTTTT	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*584T>-	11.37:g.132205624delT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.294	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	21	0	T	NM_016522		132205624	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	12.24	43	6	DEL	0.000	-
NUMBL	9253	genome.wustl.edu	37	19	41183321	41183321	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:41183321C>G	ENST00000252891.4	-	7	713	c.546G>C	c.(544-546)gaG>gaC	p.E182D	NUMBL_ENST00000540131.1_Missense_Mutation_p.E141D|NUMBL_ENST00000598779.1_Missense_Mutation_p.E141D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	182	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCAGCCTCTCGCCCTATG	0.667																																																	0													20.0	21.0	21.0					19																	41183321		2200	4298	6498	SO:0001583	missense	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.546G>C	19.37:g.41183321C>G	ENSP00000252891:p.Glu182Asp		Q7Z4J9	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.E182D	ENST00000252891.4	37	c.546	CCDS12561.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247841	0.80024	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.21543	2.0;2.0	5.31	3.16	0.36331	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.85197	2.74	0.80722	D	1	B;B	0.32128	0.357;0.357	B;B	0.30495	0.116;0.116	T	0.16247	-1.0409	10	0.87932	D	0	-27.0671	8.8388	0.35129	0.0:0.7587:0.0:0.2413	.	182;182	A8K033;Q9Y6R0	.;NUMBL_HUMAN	D	182;141	ENSP00000252891:E182D;ENSP00000442759:E141D	ENSP00000252891:E182D	E	-	3	2	NUMBL	45875161	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.057000	0.49931	1.229000	0.43630	0.655000	0.94253	GAG	NUMBL	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	ENSG00000105245		0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	-	0.00	133	0	C	NM_004756		41183321	-1	tier1	-	no_errors	ENST00000252891	ensembl	human	known	74_37	missense	8.16	90	8	SNP	1.000	G
NUPL1	9818	genome.wustl.edu	37	13	25914177	25914177	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25914177G>T	ENST00000381736.3	+	16	1955	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W	NUPL1_ENST00000381718.3_Missense_Mutation_p.G557W	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	569	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTGACTTTTGGGGTGTCCAA	0.438																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													153.0	142.0	145.0					13																	25914177		2203	4300	6503	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1705G>T	13.37:g.25914177G>T	ENSP00000371155:p.Gly569Trp		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.G569W	ENST00000381736.3	37	c.1705	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721175	0.89205	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	D;T	0.81499	-1.5;-1.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88749	0.3249	10	0.87932	D	0	-4.5407	20.422	0.99049	0.0:0.0:1.0:0.0	.	557;569	A6NI12;Q9BVL2	.;NUPL1_HUMAN	W	569;546;557	ENSP00000371155:G569W;ENSP00000371137:G557W	ENSP00000318459:G546W	G	+	1	0	NUPL1	24812177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.372000	0.97165	2.832000	0.97577	0.655000	0.94253	GGG	NUPL1	-	NULL	ENSG00000139496		0.438	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	-	0.00	54	0	G			25914177	+1	tier1	-	no_errors	ENST00000381736	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
NUPL1	9818	genome.wustl.edu	37	13	25914177	25914177	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25914177G>T	ENST00000381736.3	+	16	1955	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W	NUPL1_ENST00000381718.3_Missense_Mutation_p.G557W	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	569	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTGACTTTTGGGGTGTCCAA	0.438																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													153.0	142.0	145.0					13																	25914177		2203	4300	6503	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1705G>T	13.37:g.25914177G>T	ENSP00000371155:p.Gly569Trp		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.G569W	ENST00000381736.3	37	c.1705	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721175	0.89205	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	D;T	0.81499	-1.5;-1.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88749	0.3249	10	0.87932	D	0	-4.5407	20.422	0.99049	0.0:0.0:1.0:0.0	.	557;569	A6NI12;Q9BVL2	.;NUPL1_HUMAN	W	569;546;557	ENSP00000371155:G569W;ENSP00000371137:G557W	ENSP00000318459:G546W	G	+	1	0	NUPL1	24812177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.372000	0.97165	2.832000	0.97577	0.655000	0.94253	GGG	NUPL1	-	NULL	ENSG00000139496		0.438	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	-	0.00	78	0	G			25914177	+1	tier1	-	no_errors	ENST00000381736	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
OBP2A	29991	genome.wustl.edu	37	9	138439763	138439763	+	Silent	SNP	C	C	T	rs533103497		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:138439763C>T	ENST00000539850.1	+	4	350	c.324C>T	c.(322-324)gaC>gaT	p.D108D	OBP2A_ENST00000371776.1_Silent_p.D108D|OBP2A_ENST00000342114.4_Nonsense_Mutation_p.R64*|OBP2A_ENST00000340780.3_Silent_p.D108D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	108					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.D108D(3)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612																																																	3	Substitution - coding silent(3)	urinary_tract(1)|large_intestine(1)|endometrium(1)											60.0	54.0	56.0					9																	138439763		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.324C>T	9.37:g.138439763C>T			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Nonsense_Mutation	SNP	superfamily_Calycin-like	p.R64*	ENST00000539850.1	37	c.190	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953679	0.34471	.	.	ENSG00000122136	ENST00000342114	.	.	.	2.25	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.1138	0.8831	0.01238	0.2262:0.3671:0.2464:0.1602	.	.	.	.	X	64	.	ENSP00000340950:R64X	R	+	1	2	OBP2A	137579584	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.586000	0.05787	-0.254000	0.09500	-0.513000	0.04457	CGA	OBP2A	-	NULL	ENSG00000122136		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	-	0.00	45	0	C	NM_014582		138439763	+1	tier1	-	no_errors	ENST00000342114	ensembl	human	known	74_37	nonsense	14.29	47	8	SNP	0.001	T
OBP2A	29991	genome.wustl.edu	37	9	138439763	138439763	+	Silent	SNP	C	C	T	rs533103497		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:138439763C>T	ENST00000539850.1	+	4	350	c.324C>T	c.(322-324)gaC>gaT	p.D108D	OBP2A_ENST00000371776.1_Silent_p.D108D|OBP2A_ENST00000342114.4_Nonsense_Mutation_p.R64*|OBP2A_ENST00000340780.3_Silent_p.D108D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	108					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.D108D(3)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612																																																	3	Substitution - coding silent(3)	urinary_tract(1)|large_intestine(1)|endometrium(1)											60.0	54.0	56.0					9																	138439763		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.324C>T	9.37:g.138439763C>T			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Nonsense_Mutation	SNP	superfamily_Calycin-like	p.R64*	ENST00000539850.1	37	c.190	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953679	0.34471	.	.	ENSG00000122136	ENST00000342114	.	.	.	2.25	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.1138	0.8831	0.01238	0.2262:0.3671:0.2464:0.1602	.	.	.	.	X	64	.	ENSP00000340950:R64X	R	+	1	2	OBP2A	137579584	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.586000	0.05787	-0.254000	0.09500	-0.513000	0.04457	CGA	OBP2A	-	NULL	ENSG00000122136		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	-	0.00	60	0	C	NM_014582		138439763	+1	tier1	-	no_errors	ENST00000342114	ensembl	human	known	74_37	nonsense	14.29	47	8	SNP	0.001	T
OGFR	11054	genome.wustl.edu	37	20	61444884	61444884	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:61444884G>A	ENST00000290291.6	+	7	1942	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	OGFR_ENST00000370461.1_Silent_p.S587S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	639	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGAGCCCATCGGAGACCCCAG	0.711																																																	0													16.0	20.0	19.0					20																	61444884		2170	4267	6437	SO:0001819	synonymous_variant	0			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1917G>A	20.37:g.61444884G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.S639	ENST00000290291.6	37	c.1917	CCDS13504.1	20																																																																																			OGFR	-	pfam_OGF_rcpt_rpt	ENSG00000060491		0.711	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	-	0.00	169	0	G			61444884	+1	tier1	-	no_errors	ENST00000290291	ensembl	human	known	74_37	silent	19.26	109	26	SNP	0.008	A
OPRL1	4987	genome.wustl.edu	37	20	62730060	62730060	+	Missense_Mutation	SNP	C	C	T	rs150300242		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:62730060C>T	ENST00000349451.3	+	6	1433	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	OPRL1_ENST00000336866.2_Missense_Mutation_p.R341W|OPRL1_ENST00000355631.4_Missense_Mutation_p.R341W	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	341					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTGCGCCGGGACGTGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		21310	0.001		0.0	False		,,,				2504	0.0																0									TRP/ARG,TRP/ARG,TRP/ARG	8,4394	14.3+/-33.2	0,8,2193	78.0	70.0	72.0		1021,1021,1021	5.1	1.0	20	dbSNP_134	72	0,8596		0,0,4298	yes	missense,missense,missense	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	101,101,101	0,8,6491	TT,TC,CC		0.0,0.1817,0.0615	probably-damaging,probably-damaging,probably-damaging	341/371,341/371,341/371	62730060	8,12990	2201	4298	6499	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1021C>T	20.37:g.62730060C>T	ENSP00000336764:p.Arg341Trp		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R341W	ENST00000349451.3	37	c.1021	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391061	0.25118	0.001817	0.0	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.39056	1.1;1.1;1.1	5.12	5.12	0.69794	.	0.521764	0.19652	N	0.109181	T	0.47229	0.1434	L	0.34521	1.04	0.29802	N	0.832357	D;D	0.67145	0.996;0.993	P;P	0.56612	0.802;0.638	T	0.48305	-0.9047	10	0.62326	D	0.03	.	13.4658	0.61254	0.1969:0.8031:0.0:0.0	.	336;341	P41146-2;P41146	.;OPRX_HUMAN	W	341	ENSP00000336843:R341W;ENSP00000347848:R341W;ENSP00000336764:R341W	ENSP00000336843:R341W	R	+	1	2	OPRL1	62200504	0.006000	0.16342	1.000000	0.80357	0.127000	0.20565	0.396000	0.20867	2.381000	0.81170	0.550000	0.68814	CGG	OPRL1	-	prints_X_opioid_rcpt	ENSG00000125510		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	-	0.00	39	0	C	NM_182647		62730060	+1	tier1	rs150300242	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	8.24	77	7	SNP	0.996	T
OPRL1	4987	genome.wustl.edu	37	20	62730060	62730060	+	Missense_Mutation	SNP	C	C	T	rs150300242		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:62730060C>T	ENST00000349451.3	+	6	1433	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	OPRL1_ENST00000336866.2_Missense_Mutation_p.R341W|OPRL1_ENST00000355631.4_Missense_Mutation_p.R341W	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	341					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTGCGCCGGGACGTGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		21310	0.001		0.0	False		,,,				2504	0.0																0									TRP/ARG,TRP/ARG,TRP/ARG	8,4394	14.3+/-33.2	0,8,2193	78.0	70.0	72.0		1021,1021,1021	5.1	1.0	20	dbSNP_134	72	0,8596		0,0,4298	yes	missense,missense,missense	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	101,101,101	0,8,6491	TT,TC,CC		0.0,0.1817,0.0615	probably-damaging,probably-damaging,probably-damaging	341/371,341/371,341/371	62730060	8,12990	2201	4298	6499	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1021C>T	20.37:g.62730060C>T	ENSP00000336764:p.Arg341Trp		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R341W	ENST00000349451.3	37	c.1021	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391061	0.25118	0.001817	0.0	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.39056	1.1;1.1;1.1	5.12	5.12	0.69794	.	0.521764	0.19652	N	0.109181	T	0.47229	0.1434	L	0.34521	1.04	0.29802	N	0.832357	D;D	0.67145	0.996;0.993	P;P	0.56612	0.802;0.638	T	0.48305	-0.9047	10	0.62326	D	0.03	.	13.4658	0.61254	0.1969:0.8031:0.0:0.0	.	336;341	P41146-2;P41146	.;OPRX_HUMAN	W	341	ENSP00000336843:R341W;ENSP00000347848:R341W;ENSP00000336764:R341W	ENSP00000336843:R341W	R	+	1	2	OPRL1	62200504	0.006000	0.16342	1.000000	0.80357	0.127000	0.20565	0.396000	0.20867	2.381000	0.81170	0.550000	0.68814	CGG	OPRL1	-	prints_X_opioid_rcpt	ENSG00000125510		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	-	0.00	58	0	C	NM_182647		62730060	+1	tier1	rs150300242	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	8.24	77	7	SNP	0.996	T
OPRM1	4988	genome.wustl.edu	37	6	154360312	154360312	+	5'Flank	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:154360312G>C	ENST00000330432.7	+	0	0				OPRM1_ENST00000452687.2_5'Flank|OPRM1_ENST00000428397.2_5'Flank|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_5'Flank|OPRM1_ENST00000337049.4_5'Flank|OPRM1_ENST00000229768.5_5'Flank|OPRM1_ENST00000360422.4_5'Flank|OPRM1_ENST00000419506.2_5'Flank|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000435918.2_5'Flank|OPRM1_ENST00000434900.2_Missense_Mutation_p.R6T|OPRM1_ENST00000414028.2_5'Flank	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TTGCACAGAAGAGTGCCCAGT	0.517																																																	0													164.0	154.0	157.0					6																	154360312		692	1591	2283	SO:0001631	upstream_gene_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870		6.37:g.154360312G>C	Exception_encountered		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R6T	ENST00000330432.7	37	c.17	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978953	0.34942	.	.	ENSG00000112038	ENST00000434900	T	0.73258	-0.73	4.67	1.8	0.24995	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	0.999999	B	0.13594	0.008	B	0.14023	0.01	T	0.27806	-1.0063	9	0.87932	D	0	.	6.4284	0.21782	0.0989:0.3585:0.5425:0.0	.	6	P35372-10	.	T	6	ENSP00000394624:R6T	ENSP00000394624:R6T	R	+	2	0	OPRM1	154402005	0.049000	0.20398	0.000000	0.03702	0.285000	0.27093	2.651000	0.46674	0.186000	0.20125	0.650000	0.86243	AGA	OPRM1	-	NULL	ENSG00000112038		0.517	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0.00	43	0	G	NM_000914		154360312	+1	tier1	-	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.000	C
OPRM1	4988	genome.wustl.edu	37	6	154360312	154360312	+	5'Flank	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:154360312G>C	ENST00000330432.7	+	0	0				OPRM1_ENST00000452687.2_5'Flank|OPRM1_ENST00000428397.2_5'Flank|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_5'Flank|OPRM1_ENST00000337049.4_5'Flank|OPRM1_ENST00000229768.5_5'Flank|OPRM1_ENST00000360422.4_5'Flank|OPRM1_ENST00000419506.2_5'Flank|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000435918.2_5'Flank|OPRM1_ENST00000434900.2_Missense_Mutation_p.R6T|OPRM1_ENST00000414028.2_5'Flank	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TTGCACAGAAGAGTGCCCAGT	0.517																																																	0													164.0	154.0	157.0					6																	154360312		692	1591	2283	SO:0001631	upstream_gene_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870		6.37:g.154360312G>C	Exception_encountered		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R6T	ENST00000330432.7	37	c.17	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978953	0.34942	.	.	ENSG00000112038	ENST00000434900	T	0.73258	-0.73	4.67	1.8	0.24995	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	0.999999	B	0.13594	0.008	B	0.14023	0.01	T	0.27806	-1.0063	9	0.87932	D	0	.	6.4284	0.21782	0.0989:0.3585:0.5425:0.0	.	6	P35372-10	.	T	6	ENSP00000394624:R6T	ENSP00000394624:R6T	R	+	2	0	OPRM1	154402005	0.049000	0.20398	0.000000	0.03702	0.285000	0.27093	2.651000	0.46674	0.186000	0.20125	0.650000	0.86243	AGA	OPRM1	-	NULL	ENSG00000112038		0.517	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0.00	49	0	G	NM_000914		154360312	+1	tier1	-	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.000	C
OR10G6	79490	genome.wustl.edu	37	11	123865646	123865646	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:123865646G>A	ENST00000307002.3	-	1	222	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W				Q8NH81	O10G6_HUMAN	olfactory receptor, family 10, subfamily G, member 6	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CGATGGAGCCGGATGTCCACT	0.502																																																	0																																										SO:0001583	missense	0			AB065508		11q24.1	2013-03-28	2004-03-04	2004-03-05	ENSG00000198674	ENSG00000198674		"""GPCR / Class A : Olfactory receptors"""	14836	other	unknown			"""olfactory receptor, family 10, subfamily G, member 6 pseudogene"""	OR10G6P			Standard	NG_002255		Approved	OR10G6Q		Q8NH81	OTTHUMG00000165964	ENST00000307002.3:c.223C>T	11.37:g.123865646G>A	ENSP00000477445:p.Arg75Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R75W	ENST00000307002.3	37	c.223		11																																																																																			OR10G6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198674		0.502	OR10G6-001	KNOWN	basic|appris_principal	protein_coding	OR10G6	HGNC	protein_coding	OTTHUMT00000387266.2	-	0.00	49	0	G	NG_002255		123865646	-1	tier1	-	no_errors	ENST00000307002	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.171	A
OR10K2	391107	genome.wustl.edu	37	1	158390342	158390342	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158390342G>A	ENST00000314902.2	-	1	314	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493																																																	0													179.0	177.0	177.0					1																	158390342		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.315C>T	1.37:g.158390342G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L105	ENST00000314902.2	37	c.315	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180708		0.493	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	-	0.00	53	0	G	NM_001004476		158390342	-1	tier1	-	no_errors	ENST00000314902	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.001	A
OR10K2	391107	genome.wustl.edu	37	1	158390342	158390342	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158390342G>A	ENST00000314902.2	-	1	314	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493																																																	0													179.0	177.0	177.0					1																	158390342		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.315C>T	1.37:g.158390342G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L105	ENST00000314902.2	37	c.315	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180708		0.493	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	-	0.00	60	0	G	NM_001004476		158390342	-1	tier1	-	no_errors	ENST00000314902	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.001	A
OR10Z1	128368	genome.wustl.edu	37	1	158576411	158576411	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158576411C>A	ENST00000361284.1	+	1	183	c.183C>A	c.(181-183)ctC>ctA	p.L61L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCATGTACCTCTTCCTTTCCT	0.512																																																	0													253.0	246.0	248.0					1																	158576411		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.183C>A	1.37:g.158576411C>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L61	ENST00000361284.1	37	c.183	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0.00	87	0	C	NM_001004478		158576411	+1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	10.19	97	11	SNP	0.775	A
OR10Z1	128368	genome.wustl.edu	37	1	158576411	158576411	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:158576411C>A	ENST00000361284.1	+	1	183	c.183C>A	c.(181-183)ctC>ctA	p.L61L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCATGTACCTCTTCCTTTCCT	0.512																																																	0													253.0	246.0	248.0					1																	158576411		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.183C>A	1.37:g.158576411C>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L61	ENST00000361284.1	37	c.183	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0.00	90	0	C	NM_001004478		158576411	+1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	10.19	97	11	SNP	0.775	A
OR1L4	254973	genome.wustl.edu	37	9	125486311	125486311	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:125486311C>G	ENST00000259466.1	+	1	43	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGGCTTCATCCTCCTGGGCCT	0.493																																																	0													199.0	189.0	192.0					9																	125486311		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.43C>G	9.37:g.125486311C>G	ENSP00000259466:p.Leu15Val		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15V	ENST00000259466.1	37	c.43	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	c	9.325	1.059044	0.19987	.	.	ENSG00000136939	ENST00000259466	T	0.01185	5.21	3.94	3.03	0.35002	.	0.000000	0.40640	N	0.001056	T	0.02848	0.0085	H	0.94503	3.545	0.33560	D	0.597281	P	0.37015	0.578	B	0.35182	0.197	T	0.04029	-1.0983	10	0.87932	D	0	-14.9583	3.0401	0.06135	0.2152:0.5509:0.0:0.2339	.	15	Q8NGR5	OR1L4_HUMAN	V	15	ENSP00000259466:L15V	ENSP00000259466:L15V	L	+	1	0	OR1L4	124526132	0.434000	0.25570	1.000000	0.80357	0.561000	0.35649	0.245000	0.18142	0.830000	0.34757	0.305000	0.20034	CTC	OR1L4	-	NULL	ENSG00000136939		0.493	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	-	0.00	105	0	C			125486311	+1	tier1	-	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	9.92	118	13	SNP	0.998	G
OR1L4	254973	genome.wustl.edu	37	9	125486311	125486311	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:125486311C>G	ENST00000259466.1	+	1	43	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGGCTTCATCCTCCTGGGCCT	0.493																																																	0													199.0	189.0	192.0					9																	125486311		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.43C>G	9.37:g.125486311C>G	ENSP00000259466:p.Leu15Val		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15V	ENST00000259466.1	37	c.43	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	c	9.325	1.059044	0.19987	.	.	ENSG00000136939	ENST00000259466	T	0.01185	5.21	3.94	3.03	0.35002	.	0.000000	0.40640	N	0.001056	T	0.02848	0.0085	H	0.94503	3.545	0.33560	D	0.597281	P	0.37015	0.578	B	0.35182	0.197	T	0.04029	-1.0983	10	0.87932	D	0	-14.9583	3.0401	0.06135	0.2152:0.5509:0.0:0.2339	.	15	Q8NGR5	OR1L4_HUMAN	V	15	ENSP00000259466:L15V	ENSP00000259466:L15V	L	+	1	0	OR1L4	124526132	0.434000	0.25570	1.000000	0.80357	0.561000	0.35649	0.245000	0.18142	0.830000	0.34757	0.305000	0.20034	CTC	OR1L4	-	NULL	ENSG00000136939		0.493	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	-	0.00	121	0	C			125486311	+1	tier1	-	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	9.92	118	13	SNP	0.998	G
OR4A16	81327	genome.wustl.edu	37	11	55111564	55111565	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:55111564_55111565insA	ENST00000314721.2	+	1	938_939	c.888_889insA	c.(889-891)aaafs	p.K297fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AAAATGCTATGAAAAATCTCTG	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.893dupA	11.37:g.55111569_55111569dupA	ENSP00000325128:p.Lys297fs		Q6IFL3	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N297fs	ENST00000314721.2	37	c.888_889	CCDS31499.1	11																																																																																			OR4A16	-	NULL	ENSG00000181961		0.312	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0.00	46	0	0	NM_001005274		55111565	+1			no_errors	ENST00000314721	ensembl	human	known	74_37	frame_shift_ins	16.33	41	8	INS	0.168:0.033	A
OR4Q3	441669	genome.wustl.edu	37	14	20216087	20216087	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:20216087G>T	ENST00000331723.1	+	1	501	c.501G>T	c.(499-501)ctG>ctT	p.L167L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCCAGCTGCCTTTCTGTG	0.507																																																	0													134.0	124.0	127.0					14																	20216087		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.501G>T	14.37:g.20216087G>T			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L167	ENST00000331723.1	37	c.501	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182652		0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0.00	100	0	G			20216087	+1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	23.73	90	28	SNP	0.719	T
OR4Q3	441669	genome.wustl.edu	37	14	20216087	20216087	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:20216087G>T	ENST00000331723.1	+	1	501	c.501G>T	c.(499-501)ctG>ctT	p.L167L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCCAGCTGCCTTTCTGTG	0.507																																																	0													134.0	124.0	127.0					14																	20216087		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.501G>T	14.37:g.20216087G>T			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L167	ENST00000331723.1	37	c.501	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182652		0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0.00	115	0	G			20216087	+1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	23.73	90	28	SNP	0.719	T
OR51L1	119682	genome.wustl.edu	37	11	5021006	5021006	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5021006G>A	ENST00000321543.1	+	1	794	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGTCCATCGCTTTGGGAAG	0.468																																																	0													203.0	174.0	184.0					11																	5021006		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.794G>A	11.37:g.5021006G>A	ENSP00000322156:p.Arg265His		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R265H	ENST00000321543.1	37	c.794	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175738	0.57692	.	.	ENSG00000176798	ENST00000321543	T	0.37235	1.21	5.43	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000601	T	0.61160	0.2325	M	0.88512	2.96	0.20403	N	0.999904	D	0.76494	0.999	D	0.64877	0.93	T	0.58819	-0.7569	10	0.72032	D	0.01	.	10.2648	0.43449	0.1587:0.0:0.8413:0.0	.	265	Q8NGJ5	O51L1_HUMAN	H	265	ENSP00000322156:R265H	ENSP00000322156:R265H	R	+	2	0	OR51L1	4977582	0.008000	0.16893	0.998000	0.56505	0.949000	0.60115	1.831000	0.39141	1.524000	0.49035	0.650000	0.86243	CGC	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.468	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0.00	112	0	G	NM_001004755		5021006	+1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	9.28	88	9	SNP	0.613	A
OR51Q1	390061	genome.wustl.edu	37	11	5443871	5443871	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5443871G>A	ENST00000300778.4	+	1	531	c.441G>A	c.(439-441)ggG>ggA	p.G147G	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGAACTGGGTTAGCCATCA	0.517																																																	0													269.0	229.0	243.0					11																	5443871		2201	4297	6498	SO:0001819	synonymous_variant	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.441G>A	11.37:g.5443871G>A			B2RNN1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147	ENST00000300778.4	37	c.441	CCDS31381.1	11																																																																																			OR51Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167360		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0.00	39	0	G	NM_001004757		5443871	+1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.009	A
OR51Q1	390061	genome.wustl.edu	37	11	5443871	5443871	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5443871G>A	ENST00000300778.4	+	1	531	c.441G>A	c.(439-441)ggG>ggA	p.G147G	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGAACTGGGTTAGCCATCA	0.517																																																	0													269.0	229.0	243.0					11																	5443871		2201	4297	6498	SO:0001819	synonymous_variant	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.441G>A	11.37:g.5443871G>A			B2RNN1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147	ENST00000300778.4	37	c.441	CCDS31381.1	11																																																																																			OR51Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167360		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0.00	41	0	G	NM_001004757		5443871	+1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.009	A
OR51S1	119692	genome.wustl.edu	37	11	4869954	4869954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:4869954delC	ENST00000322101.2	-	1	560	c.485delG	c.(484-486)ggtfs	p.G162fs	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATGGAGACCCAGGCATCG	0.552																																																	0													102.0	103.0	103.0					11																	4869954		2201	4298	6499	SO:0001589	frameshift_variant	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.485delG	11.37:g.4869954delC	ENSP00000322754:p.Gly162fs		B9EGZ1|Q6IFI2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G162fs	ENST00000322101.2	37	c.485	CCDS31362.1	11																																																																																			OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1		0.00	49	0	C	NM_001004758		4869954	-1	tier1		no_errors	ENST00000322101	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.027	-
OR51Q1	390061	genome.wustl.edu	37	11	5444098	5444098	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5444098T>G	ENST00000300778.4	+	1	758	c.668T>G	c.(667-669)aTt>aGt	p.I223S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATACACTTATTCTGAAAAAT	0.493																																																	0													139.0	121.0	127.0					11																	5444098		2201	4297	6498	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.668T>G	11.37:g.5444098T>G	ENSP00000300778:p.Ile223Ser		B2RNN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I223S	ENST00000300778.4	37	c.668	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633558	0.47049	.	.	ENSG00000167360	ENST00000300778	T	0.00384	7.6	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.01835	0.0058	H	0.97540	4.025	0.44036	D	0.996762	D	0.89917	1.0	D	0.91635	0.999	T	0.07558	-1.0766	10	0.87932	D	0	.	13.8023	0.63208	0.0:0.0:0.0:1.0	.	223	Q8NH59	O51Q1_HUMAN	S	223	ENSP00000300778:I223S	ENSP00000300778:I223S	I	+	2	0	OR51Q1	5400674	1.000000	0.71417	0.055000	0.19348	0.456000	0.32438	4.537000	0.60643	2.133000	0.65898	0.311000	0.20440	ATT	OR51Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167360		0.493	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0.00	52	0	T	NM_001004757		5444098	+1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.752	G
OR51Q1	390061	genome.wustl.edu	37	11	5444098	5444098	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5444098T>G	ENST00000300778.4	+	1	758	c.668T>G	c.(667-669)aTt>aGt	p.I223S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATACACTTATTCTGAAAAAT	0.493																																																	0													139.0	121.0	127.0					11																	5444098		2201	4297	6498	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.668T>G	11.37:g.5444098T>G	ENSP00000300778:p.Ile223Ser		B2RNN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I223S	ENST00000300778.4	37	c.668	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633558	0.47049	.	.	ENSG00000167360	ENST00000300778	T	0.00384	7.6	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.01835	0.0058	H	0.97540	4.025	0.44036	D	0.996762	D	0.89917	1.0	D	0.91635	0.999	T	0.07558	-1.0766	10	0.87932	D	0	.	13.8023	0.63208	0.0:0.0:0.0:1.0	.	223	Q8NH59	O51Q1_HUMAN	S	223	ENSP00000300778:I223S	ENSP00000300778:I223S	I	+	2	0	OR51Q1	5400674	1.000000	0.71417	0.055000	0.19348	0.456000	0.32438	4.537000	0.60643	2.133000	0.65898	0.311000	0.20440	ATT	OR51Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167360		0.493	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	-	0.00	82	0	T	NM_001004757		5444098	+1	tier1	-	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.752	G
OTOG	340990	genome.wustl.edu	37	11	17621219	17621219	+	Splice_Site	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:17621219G>A	ENST00000399391.2	+	30	3720	c.3720G>A	c.(3718-3720)ccG>ccA	p.P1240P	OTOG_ENST00000399397.1_Splice_Site_p.P1167P|OTOG_ENST00000342528.2_Intron	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1240					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CTCTTTCAGCGTATGACTGTG	0.582											OREG0020813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001630	splice_region_variant	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.3719-1G>A	11.37:g.17621219G>A		719	A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.P1240	ENST00000399391.2	37	c.3720	CCDS59225.1	11																																																																																			OTOG	-	pfam_Unchr_dom_Cys-rich,superfamily_AbfB,smart_Unchr_dom_Cys-rich	ENSG00000188162		0.582	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	62	0	G		Silent	17621219	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.189	A
OR5M9	390162	genome.wustl.edu	37	11	56230592	56230592	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:56230592A>C	ENST00000279791.1	-	1	285	c.286T>G	c.(286-288)Ttg>Gtg	p.L96V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CACTGCACCAAGCATCCCACA	0.488																																																	0													120.0	114.0	116.0					11																	56230592		2201	4296	6497	SO:0001583	missense	0			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.286T>G	11.37:g.56230592A>C	ENSP00000279791:p.Leu96Val		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L96V	ENST00000279791.1	37	c.286	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.141086	0.01728	.	.	ENSG00000150269	ENST00000279791	T	0.00414	7.52	4.64	-1.28	0.09318	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	N	0.002145	T	0.00328	0.0010	L	0.33093	0.98	0.09310	N	1	D	0.54047	0.964	P	0.52343	0.696	T	0.54596	-0.8270	10	0.23891	T	0.37	-19.5881	3.2687	0.06874	0.4104:0.0:0.3212:0.2684	.	96	Q8NGP3	OR5M9_HUMAN	V	96	ENSP00000279791:L96V	ENSP00000279791:L96V	L	-	1	2	OR5M9	55987168	0.000000	0.05858	0.110000	0.21437	0.128000	0.20619	-5.542000	0.00114	-0.077000	0.12752	0.448000	0.29417	TTG	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000150269		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1		0.00	20	0	A	NM_001004743		56230592	-1			no_errors	ENST00000279791	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.041	C
OXGR1	27199	genome.wustl.edu	37	13	97639174	97639174	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:97639174G>A	ENST00000298440.1	-	4	1083	c.840C>T	c.(838-840)atC>atT	p.I280I	OXGR1_ENST00000543457.1_Silent_p.I280I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	280					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGCTTCATGGATCTGATTCT	0.428																																																	0													124.0	111.0	116.0					13																	97639174		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.840C>T	13.37:g.97639174G>A			Q5T5A7|Q86TL1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I280	ENST00000298440.1	37	c.840	CCDS9482.1	13																																																																																			OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165621		0.428	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	-	0.00	36	0	G	NM_080818		97639174	-1	tier1	-	no_errors	ENST00000298440	ensembl	human	known	74_37	silent	14.49	58	10	SNP	1.000	A
OXGR1	27199	genome.wustl.edu	37	13	97639174	97639174	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:97639174G>A	ENST00000298440.1	-	4	1083	c.840C>T	c.(838-840)atC>atT	p.I280I	OXGR1_ENST00000543457.1_Silent_p.I280I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	280					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGCTTCATGGATCTGATTCT	0.428																																																	0													124.0	111.0	116.0					13																	97639174		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.840C>T	13.37:g.97639174G>A			Q5T5A7|Q86TL1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I280	ENST00000298440.1	37	c.840	CCDS9482.1	13																																																																																			OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165621		0.428	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	-	0.00	47	0	G	NM_080818		97639174	-1	tier1	-	no_errors	ENST00000298440	ensembl	human	known	74_37	silent	14.49	58	10	SNP	1.000	A
PABPN1	8106	genome.wustl.edu	37	14	23792618	23792618	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:23792618A>T	ENST00000216727.4	+	4	748	c.567A>T	c.(565-567)gaA>gaT	p.E189D	PABPN1_ENST00000557702.1_Missense_Mutation_p.E61D|PABPN1_ENST00000556821.1_Missense_Mutation_p.E61D|PABPN1_ENST00000397276.2_Missense_Mutation_p.E189D|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E216D|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E216D	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	189	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGAGCTGGAAGCTCACTTTC	0.478																																																	0													95.0	92.0	93.0					14																	23792618		2203	4300	6503	SO:0001583	missense	0			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.567A>T	14.37:g.23792618A>T	ENSP00000216727:p.Glu189Asp		D3DS49|O43484	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E189D	ENST00000216727.4	37	c.567	CCDS9592.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296730	0.81025	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	4.89	1.11	0.20524	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.62016	1.91	0.58432	D	0.999993	P;P;P	0.46706	0.883;0.858;0.876	P;P;P	0.61800	0.823;0.661;0.894	T	0.02150	-1.1205	10	0.72032	D	0.01	-5.2755	7.8495	0.29446	0.5725:0.0:0.4275:0.0	.	189;189;216	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	D	216;216;189;189;61;61	ENSP00000451320:E216D;ENSP00000452479:E216D;ENSP00000216727:E189D;ENSP00000380446:E189D;ENSP00000451970:E61D;ENSP00000450724:E61D	ENSP00000216727:E189D	E	+	3	2	PABPN1;RP11-124D2.2	22862458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.980000	0.29513	0.283000	0.22279	0.459000	0.35465	GAA	PABPN1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000100836		0.478	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	-	0.00	41	0	A	NM_004643		23792618	+1	tier1	-	no_errors	ENST00000216727	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T
PABPN1	8106	genome.wustl.edu	37	14	23792618	23792618	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:23792618A>T	ENST00000216727.4	+	4	748	c.567A>T	c.(565-567)gaA>gaT	p.E189D	PABPN1_ENST00000557702.1_Missense_Mutation_p.E61D|PABPN1_ENST00000556821.1_Missense_Mutation_p.E61D|PABPN1_ENST00000397276.2_Missense_Mutation_p.E189D|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E216D|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E216D	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	189	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGAGCTGGAAGCTCACTTTC	0.478																																																	0													95.0	92.0	93.0					14																	23792618		2203	4300	6503	SO:0001583	missense	0			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.567A>T	14.37:g.23792618A>T	ENSP00000216727:p.Glu189Asp		D3DS49|O43484	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E189D	ENST00000216727.4	37	c.567	CCDS9592.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296730	0.81025	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	4.89	1.11	0.20524	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.62016	1.91	0.58432	D	0.999993	P;P;P	0.46706	0.883;0.858;0.876	P;P;P	0.61800	0.823;0.661;0.894	T	0.02150	-1.1205	10	0.72032	D	0.01	-5.2755	7.8495	0.29446	0.5725:0.0:0.4275:0.0	.	189;189;216	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	D	216;216;189;189;61;61	ENSP00000451320:E216D;ENSP00000452479:E216D;ENSP00000216727:E189D;ENSP00000380446:E189D;ENSP00000451970:E61D;ENSP00000450724:E61D	ENSP00000216727:E189D	E	+	3	2	PABPN1;RP11-124D2.2	22862458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.980000	0.29513	0.283000	0.22279	0.459000	0.35465	GAA	PABPN1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000100836		0.478	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	-	0.00	61	0	A	NM_004643		23792618	+1	tier1	-	no_errors	ENST00000216727	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T
AKAP2	11217	genome.wustl.edu	37	9	112899486	112899486	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:112899486C>G	ENST00000259318.7	+	2	1176	c.969C>G	c.(967-969)ttC>ttG	p.F323L	AKAP2_ENST00000374525.1_Missense_Mutation_p.F412L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.F554L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.F554L|AKAP2_ENST00000555236.1_Missense_Mutation_p.F554L|AKAP2_ENST00000434623.2_Missense_Mutation_p.F412L|AKAP2_ENST00000510514.5_Missense_Mutation_p.F554L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGATAGATTTCTCTGCTGCTC	0.527																																																	0													26.0	24.0	25.0					9																	112899486		2203	4295	6498	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.969C>G	9.37:g.112899486C>G	ENSP00000259318:p.Phe323Leu		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.F554L	ENST00000259318.7	37	c.1662	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412179	0.42817	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.07	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.70275	2.135	0.47819	D	0.999525	P;P;D;P;P;P;P;P	0.53151	0.66;0.778;0.958;0.778;0.671;0.885;0.885;0.69	B;B;B;B;B;P;P;B	0.46110	0.316;0.262;0.38;0.262;0.134;0.504;0.504;0.307	T	0.64901	-0.6298	10	0.42905	T	0.14	-27.8594	11.1037	0.48190	0.0:0.8594:0.0:0.1406	.	323;412;406;412;413;554;554;372	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	554;554;554;554;412;412;372;323	ENSP00000363654:F554L;ENSP00000305861:F554L;ENSP00000451476:F554L;ENSP00000421522:F554L;ENSP00000404782:F412L;ENSP00000363649:F412L;ENSP00000419268:F372L;ENSP00000259318:F323L	ENSP00000259318:F323L	F	+	3	2	PALM2-AKAP2;AKAP2	111939307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.841000	0.27613	2.884000	0.98904	0.655000	0.94253	TTC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0.00	57	0	C	NM_001004065		112899486	+1			no_errors	ENST00000374530	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	G
PARD3	56288	genome.wustl.edu	37	10	34759145	34759145	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:34759145G>T	ENST00000374789.3	-	4	775	c.450C>A	c.(448-450)ggC>ggA	p.G150G	PARD3_ENST00000350537.4_Silent_p.G150G|PARD3_ENST00000374776.1_Silent_p.G150G|PARD3_ENST00000340077.5_Silent_p.G150G|PARD3_ENST00000374790.3_Silent_p.G150G|PARD3_ENST00000545693.1_Silent_p.G150G|PARD3_ENST00000346874.4_Silent_p.G150G|PARD3_ENST00000374773.1_Silent_p.G150G|PARD3_ENST00000545260.1_Silent_p.G150G|PARD3_ENST00000374788.3_Silent_p.G150G|PARD3_ENST00000374794.3_Silent_p.G150G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	150					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGTGGAGAGGCCAATTAGAG	0.423																																																	0													126.0	125.0	126.0					10																	34759145		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.450C>A	10.37:g.34759145G>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G150	ENST00000374789.3	37	c.450	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0.00	43	0	G	NM_019619		34759145	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
PARD3	56288	genome.wustl.edu	37	10	34759145	34759145	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:34759145G>T	ENST00000374789.3	-	4	775	c.450C>A	c.(448-450)ggC>ggA	p.G150G	PARD3_ENST00000350537.4_Silent_p.G150G|PARD3_ENST00000374776.1_Silent_p.G150G|PARD3_ENST00000340077.5_Silent_p.G150G|PARD3_ENST00000374790.3_Silent_p.G150G|PARD3_ENST00000545693.1_Silent_p.G150G|PARD3_ENST00000346874.4_Silent_p.G150G|PARD3_ENST00000374773.1_Silent_p.G150G|PARD3_ENST00000545260.1_Silent_p.G150G|PARD3_ENST00000374788.3_Silent_p.G150G|PARD3_ENST00000374794.3_Silent_p.G150G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	150					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGTGGAGAGGCCAATTAGAG	0.423																																																	0													126.0	125.0	126.0					10																	34759145		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.450C>A	10.37:g.34759145G>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G150	ENST00000374789.3	37	c.450	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0.00	50	0	G	NM_019619		34759145	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
PARP4	143	genome.wustl.edu	37	13	25044067	25044067	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25044067C>T	ENST00000381989.3	-	16	2116	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	671	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGAAGGCTTCGAAGCCACAC	0.463																																																	0													89.0	68.0	75.0					13																	25044067		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2011G>A	13.37:g.25044067C>T	ENSP00000371419:p.Glu671Lys		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E671K	ENST00000381989.3	37	c.2011	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558314	0.65538	.	.	ENSG00000102699	ENST00000381989	T	0.22134	1.97	3.6	3.6	0.41247	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.122641	0.53938	U	0.000051	T	0.31104	0.0786	M	0.65677	2.01	0.58432	D	0.999992	D	0.57257	0.979	P	0.49853	0.624	T	0.13872	-1.0493	10	0.49607	T	0.09	-19.8492	13.1499	0.59484	0.0:1.0:0.0:0.0	.	671	Q9UKK3	PARP4_HUMAN	K	671	ENSP00000371419:E671K	ENSP00000371419:E671K	E	-	1	0	PARP4	23942067	1.000000	0.71417	0.872000	0.34217	0.089000	0.18198	5.091000	0.64505	2.023000	0.59567	0.449000	0.29647	GAA	PARP4	-	pfam_VIT,smart_VIT	ENSG00000102699		0.463	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0.00	84	0	C	NM_006437		25044067	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
PARP4	143	genome.wustl.edu	37	13	25044067	25044067	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:25044067C>T	ENST00000381989.3	-	16	2116	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	671	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGAAGGCTTCGAAGCCACAC	0.463																																																	0													89.0	68.0	75.0					13																	25044067		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2011G>A	13.37:g.25044067C>T	ENSP00000371419:p.Glu671Lys		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E671K	ENST00000381989.3	37	c.2011	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558314	0.65538	.	.	ENSG00000102699	ENST00000381989	T	0.22134	1.97	3.6	3.6	0.41247	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.122641	0.53938	U	0.000051	T	0.31104	0.0786	M	0.65677	2.01	0.58432	D	0.999992	D	0.57257	0.979	P	0.49853	0.624	T	0.13872	-1.0493	10	0.49607	T	0.09	-19.8492	13.1499	0.59484	0.0:1.0:0.0:0.0	.	671	Q9UKK3	PARP4_HUMAN	K	671	ENSP00000371419:E671K	ENSP00000371419:E671K	E	-	1	0	PARP4	23942067	1.000000	0.71417	0.872000	0.34217	0.089000	0.18198	5.091000	0.64505	2.023000	0.59567	0.449000	0.29647	GAA	PARP4	-	pfam_VIT,smart_VIT	ENSG00000102699		0.463	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0.00	86	0	C	NM_006437		25044067	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
PCDH7	5099	genome.wustl.edu	37	4	30724297	30724297	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:30724297G>A	ENST00000361762.2	+	1	2261	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	PCDH7_ENST00000543491.1_Missense_Mutation_p.R418H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	418					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGAAATCCGCAAGATTGGG	0.637																																																	0													43.0	44.0	44.0					4																	30724297		2203	4300	6503	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1253G>A	4.37:g.30724297G>A	ENSP00000355243:p.Arg418His		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R418H	ENST00000361762.2	37	c.1253	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533982	0.85812	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.20463	2.07;2.07	5.48	5.48	0.80851	Cadherin-like (1);	.	.	.	.	T	0.48132	0.1483	M	0.69463	2.115	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	T	0.46373	-0.9196	9	0.87932	D	0	.	19.3488	0.94376	0.0:0.0:1.0:0.0	.	418;371;418	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	H	418;418;371	ENSP00000355243:R418H;ENSP00000441802:R418H	ENSP00000330302:R371H	R	+	2	0	PCDH7	30333395	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.569000	0.86673	0.655000	0.94253	CGC	PCDH7	-	superfamily_Cadherin-like	ENSG00000169851		0.637	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1		0.00	15	0	G	NM_032457, NM_002589		30724297	+1			no_errors	ENST00000543491	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	A
PCDHA2	56146	genome.wustl.edu	37	5	140175718	140175718	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140175718C>T	ENST00000526136.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T390M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T390M	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCACGTC	0.577																																																	0													140.0	118.0	125.0					5																	140175718		2203	4300	6503	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1169C>T	5.37:g.140175718C>T	ENSP00000431748:p.Thr390Met		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T390M	ENST00000526136.1	37	c.1169	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	1.751	-0.489180	0.04352	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.63;0.63;0.63	3.98	-2.04	0.07343	Cadherin (4);Cadherin-like (1);	1.714320	0.04214	U	0.332275	T	0.29458	0.0734	L	0.37630	1.12	0.09310	N	1	P;P;P	0.42973	0.796;0.486;0.796	B;B;B	0.34824	0.18;0.19;0.119	T	0.24225	-1.0166	10	0.37606	T	0.19	.	1.4679	0.02410	0.2105:0.3159:0.2955:0.1781	.	390;390;390	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	390	ENSP00000430584:T390M;ENSP00000367372:T390M;ENSP00000431748:T390M	ENSP00000367372:T390M	T	+	2	0	PCDHA2	140155902	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-3.347000	0.00503	-0.066000	0.12998	0.650000	0.86243	ACG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.577	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0.00	47	0	C	NM_018905		140175718	+1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	missense	15.52	49	9	SNP	0.000	T
PCDHB6	56130	genome.wustl.edu	37	5	140530476	140530476	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140530476C>T	ENST00000231136.1	+	1	638	c.638C>T	c.(637-639)gCg>gTg	p.A213V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A77V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTGATCGCGCTGGATGGC	0.602																																																	0													53.0	57.0	56.0					5																	140530476		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.638C>T	5.37:g.140530476C>T	ENSP00000231136:p.Ala213Val		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A213V	ENST00000231136.1	37	c.638	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912504	0.72983	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.77750	-1.12;1.54	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90407	0.6997	M	0.90483	3.12	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.92540	0.6041	9	0.87932	D	0	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	213	Q9Y5E3	PCDB6_HUMAN	V	77;213	ENSP00000438466:A77V;ENSP00000231136:A213V	ENSP00000231136:A213V	A	+	2	0	PCDHB6	140510660	1.000000	0.71417	0.470000	0.27216	0.370000	0.29829	6.039000	0.70972	2.394000	0.81467	0.561000	0.74099	GCG	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0.00	45	0	C	NM_018939		140530476	+1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
PCDHB14	56122	genome.wustl.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348																																					Ovarian(141;50 1831 27899 33809 37648)												0													65.0	72.0	70.0					5																	140605446		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2369G>A	5.37:g.140605446G>A	ENSP00000239449:p.Arg790Gln		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R790Q	ENST00000239449.4	37	c.2369	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	11.35	1.613348	0.28712	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.13196	2.61;2.61	4.3	3.41	0.39046	.	.	.	.	.	T	0.13927	0.0337	L	0.59436	1.845	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.18209	-1.0344	9	0.38643	T	0.18	.	7.2492	0.26140	0.0949:0.1742:0.7309:0.0	.	790	Q9Y5E9	PCDBE_HUMAN	Q	637;790	ENSP00000444518:R637Q;ENSP00000239449:R790Q	ENSP00000239449:R790Q	R	+	2	0	PCDHB14	140585630	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.484000	0.06528	0.892000	0.36259	0.585000	0.79938	CGA	PCDHB14	-	NULL	ENSG00000120327		0.348	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2		0.00	80	0	G	NM_018934		140605446	+1			no_errors	ENST00000239449	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.002	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607																																																	0													50.0	60.0	56.0					5																	140744135		2195	4298	6493	SO:0001587	stop_gained	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.238C>T	5.37:g.140744135C>T	ENSP00000429834:p.Arg80*		Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R80*	ENST00000518069.1	37	c.238	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341214	0.24339	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.38	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1789	0.42955	0.3747:0.1841:0.4412:0.0	.	.	.	.	X	80	.	ENSP00000429834:R80X	R	+	1	2	PCDHGA5	140724319	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-0.696000	0.05104	-0.524000	0.06400	-0.318000	0.08688	CGA	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253485		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	30	0	C	NM_018918		140744135	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	nonsense	17.31	42	9	SNP	0.001	T
PCDHGA5	56110	genome.wustl.edu	37	5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607																																																	0													50.0	60.0	56.0					5																	140744135		2195	4298	6493	SO:0001587	stop_gained	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.238C>T	5.37:g.140744135C>T	ENSP00000429834:p.Arg80*		Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R80*	ENST00000518069.1	37	c.238	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341214	0.24339	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.38	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1789	0.42955	0.3747:0.1841:0.4412:0.0	.	.	.	.	X	80	.	ENSP00000429834:R80X	R	+	1	2	PCDHGA5	140724319	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-0.696000	0.05104	-0.524000	0.06400	-0.318000	0.08688	CGA	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253485		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	82	0	C	NM_018918		140744135	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	nonsense	17.31	42	9	SNP	0.001	T
PCDHGA6	56109	genome.wustl.edu	37	5	140755519	140755519	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140755519G>A	ENST00000517434.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCACACGGGCGAGGTGC	0.692																																																	0													43.0	51.0	49.0					5																	140755519		2203	4298	6501	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1869G>A	5.37:g.140755519G>A			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T623	ENST00000517434.1	37	c.1869	CCDS54926.1	5																																																																																			PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.692	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0.00	207	0	G	NM_018919		140755519	+1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	silent	8.91	92	9	SNP	0.135	A
PCDHGA6	56109	genome.wustl.edu	37	5	140755519	140755519	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:140755519G>A	ENST00000517434.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCACACGGGCGAGGTGC	0.692																																																	0													43.0	51.0	49.0					5																	140755519		2203	4298	6501	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1869G>A	5.37:g.140755519G>A			A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T623	ENST00000517434.1	37	c.1869	CCDS54926.1	5																																																																																			PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.692	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0.00	75	0	G	NM_018919		140755519	+1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	silent	8.91	92	9	SNP	0.135	A
PCLO	27445	genome.wustl.edu	37	7	82584289	82584289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82584289T>A	ENST00000333891.9	-	5	6317	c.5980A>T	c.(5980-5982)Aga>Tga	p.R1994*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R1994*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGAAAGTCTTATCTTTTGC	0.388																																																	0													127.0	131.0	130.0					7																	82584289		1857	4091	5948	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5980A>T	7.37:g.82584289T>A	ENSP00000334319:p.Arg1994*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1994*	ENST00000333891.9	37	c.5980	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	48	14.213118	0.99785	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.0125	0.53295	0.0:0.0:0.1442:0.8558	.	.	.	.	X	1925;1994;1994	.	ENSP00000334319:R1994X	R	-	1	2	PCLO	82422225	0.989000	0.36119	0.971000	0.41717	0.839000	0.47603	2.799000	0.47892	2.203000	0.70933	0.533000	0.62120	AGA	PCLO	-	NULL	ENSG00000186472		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	51	0	T	NM_014510		82584289	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	16.00	63	12	SNP	0.571	A
PCLO	27445	genome.wustl.edu	37	7	82584289	82584289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82584289T>A	ENST00000333891.9	-	5	6317	c.5980A>T	c.(5980-5982)Aga>Tga	p.R1994*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R1994*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGAAAGTCTTATCTTTTGC	0.388																																																	0													127.0	131.0	130.0					7																	82584289		1857	4091	5948	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5980A>T	7.37:g.82584289T>A	ENSP00000334319:p.Arg1994*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1994*	ENST00000333891.9	37	c.5980	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	48	14.213118	0.99785	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.0125	0.53295	0.0:0.0:0.1442:0.8558	.	.	.	.	X	1925;1994;1994	.	ENSP00000334319:R1994X	R	-	1	2	PCLO	82422225	0.989000	0.36119	0.971000	0.41717	0.839000	0.47603	2.799000	0.47892	2.203000	0.70933	0.533000	0.62120	AGA	PCLO	-	NULL	ENSG00000186472		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	72	0	T	NM_014510		82584289	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	16.00	63	12	SNP	0.571	A
PCLO	27445	genome.wustl.edu	37	7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82585035G>A	ENST00000333891.9	-	5	5571	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1745L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTGACTCGGGCTACTGTC	0.488																																																	0													149.0	140.0	143.0					7																	82585035		1996	4194	6190	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5234C>T	7.37:g.82585035G>A	ENSP00000334319:p.Pro1745Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P1745L	ENST00000333891.9	37	c.5234	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080258	0.36662	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.67345	-0.26;-0.21	5.56	5.56	0.83823	.	.	.	.	.	T	0.73171	0.3553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77270	-0.2650	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1745;1745	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1676;1745;1745	ENSP00000334319:P1745L;ENSP00000388393:P1745L	ENSP00000334319:P1745L	P	-	2	0	PCLO	82422971	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.835000	0.99442	2.624000	0.88883	0.650000	0.86243	CCG	PCLO	-	NULL	ENSG00000186472		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	51	0	G	NM_014510		82585035	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A
PCLO	27445	genome.wustl.edu	37	7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:82585035G>A	ENST00000333891.9	-	5	5571	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1745L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTGACTCGGGCTACTGTC	0.488																																																	0													149.0	140.0	143.0					7																	82585035		1996	4194	6190	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5234C>T	7.37:g.82585035G>A	ENSP00000334319:p.Pro1745Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P1745L	ENST00000333891.9	37	c.5234	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080258	0.36662	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.67345	-0.26;-0.21	5.56	5.56	0.83823	.	.	.	.	.	T	0.73171	0.3553	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77270	-0.2650	9	0.87932	D	0	.	19.5248	0.95199	0.0:0.0:1.0:0.0	.	1745;1745	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1676;1745;1745	ENSP00000334319:P1745L;ENSP00000388393:P1745L	ENSP00000334319:P1745L	P	-	2	0	PCLO	82422971	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.835000	0.99442	2.624000	0.88883	0.650000	0.86243	CCG	PCLO	-	NULL	ENSG00000186472		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	86	0	G	NM_014510		82585035	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A
PCSK6	5046	genome.wustl.edu	37	15	101845524	101845524	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:101845524C>T	ENST00000348070.1	-	23	2845	c.2846G>A	c.(2845-2847)cGg>cAg	p.R949Q	RP11-299G20.2_ENST00000558838.1_RNA|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R936Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	950	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGCACAGCCGGTTGGACTT	0.597																																																	0													58.0	62.0	61.0					15																	101845524		2071	4226	6297	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2846G>A	15.37:g.101845524C>T	ENSP00000305056:p.Arg949Gln		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R949Q	ENST00000348070.1	37	c.2846		15	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410270	0.62399	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.45668	0.89;0.89	4.95	3.92	0.45320	PLAC (2);Growth factor, receptor (1);	0.250905	0.30528	N	0.009432	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	P;D;P	0.53151	0.844;0.958;0.895	B;B;B	0.41299	0.196;0.353;0.345	T	0.02263	-1.1186	10	0.18710	T	0.47	.	4.3965	0.11365	0.0:0.7214:0.0:0.2786	.	950;781;936	P29122;Q59H04;E7EM82	PCSK6_HUMAN;.;.	Q	949;936;780	ENSP00000305056:R949Q;ENSP00000351193:R936Q	ENSP00000305056:R949Q	R	-	2	0	PCSK6	99663047	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.308000	0.51896	2.300000	0.77407	0.650000	0.86243	CGG	PCSK6	-	pfam_PLAC,superfamily_Growth_fac_rcpt_N_dom,pfscan_PLAC	ENSG00000140479		0.597	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0.00	59	0	C	NM_002570		101845524	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.999	T
PDCD4	27250	genome.wustl.edu	37	10	112658029	112658029	+	3'UTR	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:112658029G>T	ENST00000280154.7	+	0	1867				BBIP1_ENST00000605265.1_5'Flank|PDCD4_ENST00000393104.2_3'UTR|MIR4680_ENST00000580906.1_RNA	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTTTTTTTTGTTTTTCGAGG	0.308																																					Ovarian(115;1498 1603 9363 40056 40885)												0																																										SO:0001624	3_prime_UTR_variant	0			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.*183G>T	10.37:g.112658029G>T			B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	RNA	SNP	-	NULL	ENST00000280154.7	37	NULL	CCDS7567.1	10																																																																																			PDCD4	-	-	ENSG00000150593		0.308	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	-	0.00	57	0	G	NM_014456		112658029	+1	tier1	-	no_errors	ENST00000498367	ensembl	human	known	74_37	rna	6.74	83	6	SNP	0.979	T
PDLIM3	27295	genome.wustl.edu	37	4	186427782	186427782	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:186427782G>A	ENST00000284770.5	-	6	760	c.687C>T	c.(685-687)ccC>ccT	p.P229P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P181P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	229					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGTCCGACTCGGGGGGCACCG	0.632																																																	0													54.0	49.0	51.0					4																	186427782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.687C>T	4.37:g.186427782G>A			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P229	ENST00000284770.5	37	c.687	CCDS3844.1	4																																																																																			PDLIM3	-	NULL	ENSG00000154553		0.632	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	-	0.00	73	0	G	NM_014476		186427782	-1	tier1	-	no_errors	ENST00000284770	ensembl	human	known	74_37	silent	18.84	56	13	SNP	0.666	A
PDLIM3	27295	genome.wustl.edu	37	4	186427782	186427782	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:186427782G>A	ENST00000284770.5	-	6	760	c.687C>T	c.(685-687)ccC>ccT	p.P229P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P181P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	229					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGTCCGACTCGGGGGGCACCG	0.632																																																	0													54.0	49.0	51.0					4																	186427782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.687C>T	4.37:g.186427782G>A			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P229	ENST00000284770.5	37	c.687	CCDS3844.1	4																																																																																			PDLIM3	-	NULL	ENSG00000154553		0.632	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	-	0.00	81	0	G	NM_014476		186427782	-1	tier1	-	no_errors	ENST00000284770	ensembl	human	known	74_37	silent	18.84	56	13	SNP	0.666	A
PEX5L	51555	genome.wustl.edu	37	3	179519819	179519819	+	Splice_Site	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:179519819C>T	ENST00000467460.1	-	15	2008	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	PEX5L_ENST00000472994.1_Splice_Site_p.E501K|PEX5L_ENST00000465751.1_Splice_Site_p.E536K|RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Splice_Site_p.E368K|PEX5L_ENST00000392649.3_Splice_Site_p.E452K|PEX5L_ENST00000476138.1_Splice_Site_p.E517K|PEX5L_ENST00000263962.8_Splice_Site_p.E558K|PEX5L_ENST00000485199.1_Splice_Site_p.E525K|PEX5L_ENST00000464614.1_Splice_Site_p.E452K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	560					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGACCGCTTCTCTAAGAAGG	0.368																																																	0													91.0	98.0	95.0					3																	179519819		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1677-1G>A	3.37:g.179519819C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E560K	ENST00000467460.1	37	c.1678	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832642	0.91036	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.996;1.0;0.998;0.995;0.999	D;D;D;D;D;D	0.81914	0.991;0.991;0.995;0.992;0.988;0.995	D	0.84898	0.0840	10	0.87932	D	0	-24.0554	19.3109	0.94187	0.0:1.0:0.0:0.0	.	501;536;452;558;525;560	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	560;558;525;558;452;368;517;448;501;452;536	ENSP00000419975:E560K;ENSP00000263962:E558K;ENSP00000418440:E525K;ENSP00000376420:E452K;ENSP00000418665:E368K;ENSP00000420555:E517K;ENSP00000418054:E501K;ENSP00000417270:E452K;ENSP00000419348:E536K	ENSP00000263962:E558K	E	-	1	0	PEX5L	181002513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.555000	0.86185	0.591000	0.81541	GAA	PEX5L	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000114757		0.368	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0.00	36	0	C	NM_016559	Missense_Mutation	179519819	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
PHACTR3	116154	genome.wustl.edu	37	20	58330337	58330337	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:58330337G>T	ENST00000371015.1	+	4	926	c.459G>T	c.(457-459)caG>caT	p.Q153H	PHACTR3_ENST00000359926.3_Missense_Mutation_p.Q150H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.Q112H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.Q112H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.Q112H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	153						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGATGCCCAGCCCGGAAGCC	0.597																																																	0													49.0	45.0	46.0					20																	58330337		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.459G>T	20.37:g.58330337G>T	ENSP00000360054:p.Gln153His		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q153H	ENST00000371015.1	37	c.459	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275685	0.23307	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.88;1.89;1.48;1.9;1.9;1.9;1.48	3.6	1.59	0.23543	.	1.040940	0.07498	N	0.906806	T	0.27205	0.0667	L	0.46157	1.445	0.09310	N	0.999999	P;B;P	0.38642	0.589;0.412;0.641	B;B;B	0.37833	0.24;0.259;0.259	T	0.21965	-1.0230	10	0.45353	T	0.12	-6.3331	6.3644	0.21447	0.2498:0.0:0.7502:0.0	.	112;153;150	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	150;153;112;112;112;112;112	ENSP00000353002:Q150H;ENSP00000360054:Q153H;ENSP00000379001:Q112H;ENSP00000442483:Q112H;ENSP00000347866:Q112H;ENSP00000378998:Q112H;ENSP00000354555:Q112H	ENSP00000347866:Q112H	Q	+	3	2	PHACTR3	57763732	0.992000	0.36948	0.004000	0.12327	0.051000	0.14879	1.281000	0.33214	0.295000	0.22570	0.591000	0.81541	CAG	PHACTR3	-	NULL	ENSG00000087495		0.597	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0.00	23	0	G	NM_080672		58330337	+1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	28.57	24	10	SNP	0.011	T
PHACTR3	116154	genome.wustl.edu	37	20	58330337	58330337	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:58330337G>T	ENST00000371015.1	+	4	926	c.459G>T	c.(457-459)caG>caT	p.Q153H	PHACTR3_ENST00000359926.3_Missense_Mutation_p.Q150H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.Q112H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.Q112H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.Q112H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.Q112H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	153						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGATGCCCAGCCCGGAAGCC	0.597																																																	0													49.0	45.0	46.0					20																	58330337		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.459G>T	20.37:g.58330337G>T	ENSP00000360054:p.Gln153His		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q153H	ENST00000371015.1	37	c.459	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275685	0.23307	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.88;1.89;1.48;1.9;1.9;1.9;1.48	3.6	1.59	0.23543	.	1.040940	0.07498	N	0.906806	T	0.27205	0.0667	L	0.46157	1.445	0.09310	N	0.999999	P;B;P	0.38642	0.589;0.412;0.641	B;B;B	0.37833	0.24;0.259;0.259	T	0.21965	-1.0230	10	0.45353	T	0.12	-6.3331	6.3644	0.21447	0.2498:0.0:0.7502:0.0	.	112;153;150	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	150;153;112;112;112;112;112	ENSP00000353002:Q150H;ENSP00000360054:Q153H;ENSP00000379001:Q112H;ENSP00000442483:Q112H;ENSP00000347866:Q112H;ENSP00000378998:Q112H;ENSP00000354555:Q112H	ENSP00000347866:Q112H	Q	+	3	2	PHACTR3	57763732	0.992000	0.36948	0.004000	0.12327	0.051000	0.14879	1.281000	0.33214	0.295000	0.22570	0.591000	0.81541	CAG	PHACTR3	-	NULL	ENSG00000087495		0.597	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0.00	63	0	G	NM_080672		58330337	+1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	28.57	24	10	SNP	0.011	T
JADE3	9767	genome.wustl.edu	37	X	46857593	46857593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:46857593C>A	ENST00000218343.4	+	4	496	c.198C>A	c.(196-198)taC>taA	p.Y66*	PHF16_ENST00000397189.1_Nonsense_Mutation_p.Y66*	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATAGCTATTACCTCTTTGCTG	0.453																																																	0													167.0	137.0	147.0					X																	46857593		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000218343.4:c.198C>A	X.37:g.46857593C>A	ENSP00000218343:p.Tyr66*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y66*	ENST00000218343.4	37	c.198	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.974240	0.97975	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	.	.	.	5.21	3.39	0.38822	.	0.114999	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1773	0.48607	0.0:0.7742:0.0:0.2258	.	.	.	.	X	66	.	ENSP00000218343:Y66X	Y	+	3	2	PHF16	46742537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.905000	0.39878	1.080000	0.41073	0.513000	0.50165	TAC	PHF16	-	pfam_Enhancer_polycomb-like_N	ENSG00000102221		0.453	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1		0.00	54	0	C			46857593	+1			no_errors	ENST00000218343	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	A
PHF3	23469	genome.wustl.edu	37	6	64422152	64422152	+	Silent	SNP	G	G	A	rs369856119		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:64422152G>A	ENST00000262043.3	+	16	5008	c.4668G>A	c.(4666-4668)acG>acA	p.T1556T	PHF3_ENST00000393387.1_Silent_p.T1556T			Q92576	PHF3_HUMAN	PHD finger protein 3	1556					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTCTTTGACGAGTCTTAGTC	0.358																																					GBM(135;136 1820 29512 34071 46235)												0								G		1,4401	2.1+/-5.4	0,1,2200	70.0	67.0	68.0		4668	-9.5	0.5	6		68	0,8596		0,0,4298	no	coding-synonymous	PHF3	NM_015153.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		1556/2040	64422152	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4668G>A	6.37:g.64422152G>A			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.T1556	ENST00000262043.3	37	c.4668	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0.00	20	0	G			64422152	+1			no_errors	ENST00000262043	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.032	A
PIK3R1	5295	genome.wustl.edu	37	5	67592130	67592130	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:67592130G>A	ENST00000521381.1	+	15	2562	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	PIK3R1_ENST00000274335.5_Missense_Mutation_p.R649Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R657Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R286Q|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R349Q|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R379Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R649Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	649	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		R -> W (in SHORTS; impairs interaction between PIK3R1 and IRS1 and reduces AKT1- mediated insulin signaling). {ECO:0000269|PubMed:23810379}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.R649Q(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTTCTTGTCCGGGAGAGCAGT	0.443			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	3	Substitution - Missense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(2)|lung(1)											162.0	156.0	158.0					5																	67592130		2203	4300	6503	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1946G>A	5.37:g.67592130G>A	ENSP00000428056:p.Arg649Gln		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R657Q	ENST00000521381.1	37	c.1970	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.802108	0.96960	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	5.15	5.15	0.70609	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96861	0.9632	10	0.87932	D	0	-13.6484	18.8075	0.92043	0.0:0.0:1.0:0.0	.	379;349;649	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	Q	649;649;657;649;349;379;286	ENSP00000428056:R649Q;ENSP00000429277:R649Q;ENSP00000379855:R657Q;ENSP00000274335:R649Q;ENSP00000323512:R349Q;ENSP00000338554:R379Q;ENSP00000430098:R286Q	ENSP00000274335:R649Q	R	+	2	0	PIK3R1	67627886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.689000	0.91719	0.650000	0.86243	CGG	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145675		0.443	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0.00	88	0	G	NM_181504		67592130	+1			no_errors	ENST00000396611	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A
PITPNM2	57605	genome.wustl.edu	37	12	123471081	123471081	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:123471081A>C	ENST00000542749.1	-	23	3691	c.3628T>G	c.(3628-3630)Tcc>Gcc	p.S1210A	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S1210A|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S931A|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S1204A			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1210					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCTTGGTGGAGCCATAGGCC	0.667																																																	0													26.0	22.0	23.0					12																	123471081		2198	4298	6496	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3628T>G	12.37:g.123471081A>C	ENSP00000437611:p.Ser1210Ala		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.S1210A	ENST00000542749.1	37	c.3628	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696412	0.88830	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.12	5.12	0.69794	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.956;0.994	D	0.89049	0.3454	10	0.62326	D	0.03	-48.9175	15.2168	0.73274	1.0:0.0:0.0:0.0	.	1204;1210	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	A	1204;1210;931;1210	ENSP00000280562:S1204A;ENSP00000322218:S1210A;ENSP00000376223:S931A;ENSP00000437611:S1210A	ENSP00000280562:S1204A	S	-	1	0	PITPNM2	122037034	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.299000	0.96137	2.068000	0.61886	0.459000	0.35465	TCC	PITPNM2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000090975		0.667	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0.00	89	0	A	NM_020845		123471081	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	C
PKD1L2	114780	genome.wustl.edu	37	16	81209272	81209272	+	RNA	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:81209272T>C	ENST00000527937.1	-	0	402				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATAACTACTGTCAGCACAAAG	0.522																																																	0													114.0	113.0	113.0					16																	81209272		2061	4208	6269			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209272T>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.T841A	ENST00000527937.1	37	c.2521		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.680|2.680	-0.275645|-0.275645	0.05679|0.05679	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.70399	.|-0.48;-0.48;1.43	4.82|4.82	1.26|1.26	0.21427|0.21427	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.930262	.|0.09060	.|N	.|0.854518	T|T	0.48624|0.48624	0.1510|0.1510	.|.	.|.	.|.	0.20074|0.20074	N|N	0.999937|0.999937	.|B;B;B	.|0.27882	.|0.192;0.002;0.007	.|B;B;B	.|0.23018	.|0.043;0.004;0.007	T|T	0.28038|0.28038	-1.0056|-1.0056	4|9	.|0.18276	.|T	.|0.48	-1.9396|-1.9396	4.2875|4.2875	0.10862|0.10862	0.0:0.1857:0.3402:0.4741|0.0:0.1857:0.3402:0.4741	.|.	.|97;841;841	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	G|A	368|156;841;97	.|ENSP00000436309:T156A;ENSP00000337397:T841A;ENSP00000432818:T97A	.|ENSP00000337397:T841A	D|T	-|-	2|1	0|0	PKD1L2|PKD1L2	79766773|79766773	0.972000|0.972000	0.33761|0.33761	0.998000|0.998000	0.56505|0.56505	0.602000|0.602000	0.36980|0.36980	0.735000|0.735000	0.26115|0.26115	0.188000|0.188000	0.20168|0.20168	0.374000|0.374000	0.22700|0.22700	GAC|ACA	PKD1L2	-	pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	ENSG00000166473		0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	-	0.00	59	0	T			81209272	-1	tier1	-	no_errors	ENST00000337114	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.844	C
PMPCB	9512	genome.wustl.edu	37	7	102938093	102938093	+	Intron	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:102938093A>C	ENST00000249269.4	+	1	137				PMPCB_ENST00000428154.1_Intron|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATCCGAACAGTGGGTCGGG	0.736											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.99+88A>C	7.37:g.102938093A>C		1370	O60416|Q96FV4	Missense_Mutation	SNP	NULL	p.S63R	ENST00000249269.4	37	c.187	CCDS5730.1	7																																																																																			PMPCB	-	NULL	ENSG00000105819		0.736	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	-	0.00	55	0	A	NM_004279		102938093	+1	tier1	-	no_errors	ENST00000444457	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	C
PMPCB	9512	genome.wustl.edu	37	7	102938093	102938093	+	Intron	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:102938093A>C	ENST00000249269.4	+	1	137				PMPCB_ENST00000428154.1_Intron|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATCCGAACAGTGGGTCGGG	0.736											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.99+88A>C	7.37:g.102938093A>C		1370	O60416|Q96FV4	Missense_Mutation	SNP	NULL	p.S63R	ENST00000249269.4	37	c.187	CCDS5730.1	7																																																																																			PMPCB	-	NULL	ENSG00000105819		0.736	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	-	0.00	82	0	A	NM_004279		102938093	+1	tier1	-	no_errors	ENST00000444457	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	C
POM121L9P	29774	genome.wustl.edu	37	22	24648568	24648568	+	RNA	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:24648568C>T	ENST00000414583.2	+	0	773					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		AGGCCCAGTACACACAAGTTT	0.592																																																	0																																												0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24648568C>T				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.592	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	-	0.00	46	0	C	NM_014549		24648568	+1	tier1	-	no_errors	ENST00000414583	ensembl	human	known	74_37	rna	15.00	34	6	SNP	0.000	T
POTEE	445582	genome.wustl.edu	37	2	132021599	132021599	+	Silent	SNP	C	C	T	rs531655290	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTCTGGTGACGGGGTCACCC	0.617													.|||	4	0.000798722	0.0	0.0014	5008	,	,		23413	0.0		0.0	False		,,,				2504	0.0031																0													67.0	68.0	67.0					2																	132021599		2144	4178	6322	SO:0001819	synonymous_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2571C>T	2.37:g.132021599C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.D857	ENST00000356920.5	37	c.2571	CCDS46414.1	2																																																																																			POTEE	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000188219		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0.00	108	0	C	NM_001083538		132021599	+1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	silent	9.26	98	10	SNP	1.000	T
POU4F2	5458	genome.wustl.edu	37	4	147561444	147561444	+	Silent	SNP	G	G	A	rs148751103		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:147561444G>A	ENST00000281321.3	+	2	962	c.714G>A	c.(712-714)gcG>gcA	p.A238A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	238					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCCACGCGCACGGGCTGC	0.706																																																	0								G		0,4370		0,0,2185	13.0	14.0	13.0		714	-2.5	1.0	4	dbSNP_134	13	1,8545		0,1,4272	no	coding-synonymous	POU4F2	NM_004575.2		0,1,6457	AA,AG,GG		0.0117,0.0,0.0077		238/410	147561444	1,12915	2185	4273	6458	SO:0001819	synonymous_variant	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.714G>A	4.37:g.147561444G>A			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A238	ENST00000281321.3	37	c.714	CCDS34074.1	4																																																																																			POU4F2	-	NULL	ENSG00000151615		0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0.00	31	0	G	NM_004575		147561444	+1			no_errors	ENST00000281321	ensembl	human	known	74_37	silent	8.11	33	3	SNP	0.998	A
PPFIA3	8541	genome.wustl.edu	37	19	49636266	49636266	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:49636266G>A	ENST00000334186.4	+	8	1237	c.888G>A	c.(886-888)gcG>gcA	p.A296A	PPFIA3_ENST00000602351.1_Silent_p.A296A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	296					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGGCGCTGGCGCAGCGGGAAG	0.647																																																	0													26.0	23.0	24.0					19																	49636266		2203	4299	6502	SO:0001819	synonymous_variant	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.888G>A	19.37:g.49636266G>A			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A296	ENST00000334186.4	37	c.888	CCDS12758.1	19																																																																																			PPFIA3	-	NULL	ENSG00000177380		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	-	0.00	41	0	G	NM_003660		49636266	+1	tier1	-	no_errors	ENST00000334186	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.042	A
PPFIA3	8541	genome.wustl.edu	37	19	49636266	49636266	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:49636266G>A	ENST00000334186.4	+	8	1237	c.888G>A	c.(886-888)gcG>gcA	p.A296A	PPFIA3_ENST00000602351.1_Silent_p.A296A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	296					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGGCGCTGGCGCAGCGGGAAG	0.647																																																	0													26.0	23.0	24.0					19																	49636266		2203	4299	6502	SO:0001819	synonymous_variant	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.888G>A	19.37:g.49636266G>A			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A296	ENST00000334186.4	37	c.888	CCDS12758.1	19																																																																																			PPFIA3	-	NULL	ENSG00000177380		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	-	0.00	87	0	G	NM_003660		49636266	+1	tier1	-	no_errors	ENST00000334186	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.042	A
PPP1R21	129285	genome.wustl.edu	37	2	48698303	48698303	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:48698303C>T	ENST00000294952.8	+	10	1132	c.975C>T	c.(973-975)atC>atT	p.I325I	PPP1R21_ENST00000281394.4_Silent_p.I325I|PPP1R21_ENST00000449090.2_Silent_p.I325I	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	325						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTGAAAGTATCACTGAGGATA	0.393																																																	0													107.0	103.0	105.0					2																	48698303		2203	4300	6503	SO:0001819	synonymous_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.975C>T	2.37:g.48698303C>T			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.I325	ENST00000294952.8	37	c.975	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.393	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0.00	57	0	C	NM_152994		48698303	+1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	silent	11.69	68	9	SNP	0.995	T
PPP1R21	129285	genome.wustl.edu	37	2	48698303	48698303	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:48698303C>T	ENST00000294952.8	+	10	1132	c.975C>T	c.(973-975)atC>atT	p.I325I	PPP1R21_ENST00000281394.4_Silent_p.I325I|PPP1R21_ENST00000449090.2_Silent_p.I325I	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	325						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTGAAAGTATCACTGAGGATA	0.393																																																	0													107.0	103.0	105.0					2																	48698303		2203	4300	6503	SO:0001819	synonymous_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.975C>T	2.37:g.48698303C>T			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.I325	ENST00000294952.8	37	c.975	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.393	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0.00	73	0	C	NM_152994		48698303	+1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	silent	11.69	68	9	SNP	0.995	T
PRDM11	56981	genome.wustl.edu	37	11	45246119	45246119	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:45246119G>T	ENST00000530656.1	+	7	1196	c.1196G>T	c.(1195-1197)tGg>tTg	p.W399L	PRDM11_ENST00000263765.4_Missense_Mutation_p.W399L|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.W365L|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	399							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGGGGGACTGGAAGGTCCCC	0.572																																					NSCLC(118;1511 1736 6472 36603 43224)												0													64.0	75.0	71.0					11																	45246119		2203	4299	6502	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1196G>T	11.37:g.45246119G>T	ENSP00000435976:p.Trp399Leu		Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.W399L	ENST00000530656.1	37	c.1196		11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556019	0.86231	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.42131	0.98;0.98;1.06	5.51	5.51	0.81932	.	0.104206	0.44097	D	0.000490	T	0.46833	0.1413	N	0.24115	0.695	0.43628	D	0.996017	D	0.56287	0.975	P	0.54431	0.752	T	0.49495	-0.8934	10	0.72032	D	0.01	-13.4341	19.4918	0.95052	0.0:0.0:1.0:0.0	.	399	Q9NQV5	PRD11_HUMAN	L	399;399;365	ENSP00000263765:W399L;ENSP00000435976:W399L;ENSP00000394314:W365L	ENSP00000263765:W399L	W	+	2	0	PRDM11	45202695	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.220000	0.78008	2.616000	0.88540	0.558000	0.71614	TGG	PRDM11	-	NULL	ENSG00000019485		0.572	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	-	0.00	101	0	G	NM_020229		45246119	+1	tier1	-	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	9.52	76	8	SNP	1.000	T
PRDM2	7799	genome.wustl.edu	37	1	14106905	14106905	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:14106905A>C	ENST00000235372.7	+	8	3471	c.2615A>C	c.(2614-2616)cAg>cCg	p.Q872P	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Q671P|PRDM2_ENST00000311066.5_Missense_Mutation_p.Q872P|PRDM2_ENST00000413440.1_Missense_Mutation_p.Q671P|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	872					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CATTCAGTGCAGCCTACGTGT	0.418																																																	0													105.0	98.0	101.0					1																	14106905		2203	4300	6503	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2615A>C	1.37:g.14106905A>C	ENSP00000235372:p.Gln872Pro		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.Q872P	ENST00000235372.7	37	c.2615	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	A	1.550	-0.539388	0.04053	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01745	4.78;4.66;4.66;4.66	5.91	0.726	0.18248	.	0.183672	0.38720	N	0.001595	T	0.04952	0.0133	M	0.63428	1.95	0.09310	N	0.999999	B;D;D	0.71674	0.001;0.996;0.998	B;P;P	0.59703	0.001;0.731;0.862	T	0.25572	-1.0128	10	0.36615	T	0.2	.	8.2672	0.31821	0.4758:0.3971:0.0:0.1271	.	730;872;872	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	P	872;872;872;671;671	ENSP00000235372:Q872P;ENSP00000312352:Q872P;ENSP00000411103:Q671P;ENSP00000341621:Q671P	ENSP00000235372:Q872P	Q	+	2	0	PRDM2	13979492	0.999000	0.42202	0.001000	0.08648	0.022000	0.10575	2.041000	0.41213	-0.120000	0.11809	0.533000	0.62120	CAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	-	0.00	63	0	A	NM_012231		14106905	+1	tier1	-	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	13.64	57	9	SNP	0.046	C
PREX2	80243	genome.wustl.edu	37	8	69020462	69020462	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:69020462T>G	ENST00000288368.4	+	24	3111	c.2834T>G	c.(2833-2835)gTt>gGt	p.V945G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	945					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGGAAGTTTCTTATCCC	0.423																																																	0													127.0	113.0	118.0					8																	69020462		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2834T>G	8.37:g.69020462T>G	ENSP00000288368:p.Val945Gly		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V945G	ENST00000288368.4	37	c.2834	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782612	0.90282	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.44482	0.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67292	-0.5707	10	0.87932	D	0	.	15.971	0.80019	0.0:0.0:0.0:1.0	.	1010;945	Q70Z35-2;Q70Z35	.;PREX2_HUMAN	G	945;1011	ENSP00000288368:V945G	ENSP00000288368:V945G	V	+	2	0	PREX2	69183016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.175000	0.68902	0.533000	0.62120	GTT	PREX2	-	NULL	ENSG00000046889		0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	74	0	T	NM_025170		69020462	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	9.35	97	10	SNP	1.000	G
PREX2	80243	genome.wustl.edu	37	8	69020462	69020462	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:69020462T>G	ENST00000288368.4	+	24	3111	c.2834T>G	c.(2833-2835)gTt>gGt	p.V945G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	945					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGGAAGTTTCTTATCCC	0.423																																																	0													127.0	113.0	118.0					8																	69020462		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2834T>G	8.37:g.69020462T>G	ENSP00000288368:p.Val945Gly		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V945G	ENST00000288368.4	37	c.2834	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782612	0.90282	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.44482	0.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67292	-0.5707	10	0.87932	D	0	.	15.971	0.80019	0.0:0.0:0.0:1.0	.	1010;945	Q70Z35-2;Q70Z35	.;PREX2_HUMAN	G	945;1011	ENSP00000288368:V945G	ENSP00000288368:V945G	V	+	2	0	PREX2	69183016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.175000	0.68902	0.533000	0.62120	GTT	PREX2	-	NULL	ENSG00000046889		0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	87	0	T	NM_025170		69020462	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	9.35	97	10	SNP	1.000	G
PRICKLE2	166336	genome.wustl.edu	37	3	64082647	64082647	+	3'UTR	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:64082647C>G	ENST00000295902.6	-	0	5200				PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGCACAATTTCTACCAGAAAC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.*2080G>C	3.37:g.64082647C>G			Q0VF44	RNA	SNP	-	NULL	ENST00000295902.6	37	NULL	CCDS2902.1	3																																																																																			RP11-129B22.1	-	-	ENSG00000241111		0.343	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2-AS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000352219.1	-	0.00	93	0	C	NM_198859		64082647	+1	tier1	-	no_errors	ENST00000482609	ensembl	human	known	74_37	rna	9.22	128	13	SNP	1.000	G
PRICKLE2	166336	genome.wustl.edu	37	3	64082647	64082647	+	3'UTR	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:64082647C>G	ENST00000295902.6	-	0	5200				PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGCACAATTTCTACCAGAAAC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.*2080G>C	3.37:g.64082647C>G			Q0VF44	RNA	SNP	-	NULL	ENST00000295902.6	37	NULL	CCDS2902.1	3																																																																																			RP11-129B22.1	-	-	ENSG00000241111		0.343	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2-AS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000352219.1	-	0.00	95	0	C	NM_198859		64082647	+1	tier1	-	no_errors	ENST00000482609	ensembl	human	known	74_37	rna	9.22	128	13	SNP	1.000	G
PRKAR1B	5575	genome.wustl.edu	37	7	720337	720337	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:720337C>T	ENST00000406797.1	-	3	378	c.204G>A	c.(202-204)cgG>cgA	p.R68R	PRKAR1B_ENST00000360274.4_Silent_p.R68R|PRKAR1B_ENST00000544935.1_Silent_p.R68R|PRKAR1B_ENST00000403562.1_Silent_p.R68R|PRKAR1B_ENST00000537384.1_Silent_p.R68R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	68	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGACTTTTGCCGCGCCAAAA	0.607																																																	0													82.0	79.0	80.0					7																	720337		2203	4300	6503	SO:0001819	synonymous_variant	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.204G>A	7.37:g.720337C>T			Q8N422	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.R68	ENST00000406797.1	37	c.204	CCDS34579.1	7																																																																																			PRKAR1B	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000188191		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1		0.00	49	0	C			720337	-1			no_errors	ENST00000360274	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.932	T
PROL1	58503	genome.wustl.edu	37	4	71265050	71265050	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:71265050C>T	ENST00000399575.2	+	2	222	c.48C>T	c.(46-48)ttC>ttT	p.F16F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTCATGTTTCACAGTAAGTT	0.303																																																	0													92.0	86.0	88.0					4																	71265050		1821	4066	5887	SO:0001819	synonymous_variant	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.48C>T	4.37:g.71265050C>T			A8MZ07|P85047	Silent	SNP	NULL	p.F16	ENST00000399575.2	37	c.48	CCDS43235.1	4																																																																																			PROL1	-	NULL	ENSG00000171199		0.303	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0.00	67	0	C	NM_021225		71265050	+1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	silent	11.11	72	9	SNP	0.375	T
PROL1	58503	genome.wustl.edu	37	4	71265050	71265050	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:71265050C>T	ENST00000399575.2	+	2	222	c.48C>T	c.(46-48)ttC>ttT	p.F16F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTCATGTTTCACAGTAAGTT	0.303																																																	0													92.0	86.0	88.0					4																	71265050		1821	4066	5887	SO:0001819	synonymous_variant	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.48C>T	4.37:g.71265050C>T			A8MZ07|P85047	Silent	SNP	NULL	p.F16	ENST00000399575.2	37	c.48	CCDS43235.1	4																																																																																			PROL1	-	NULL	ENSG00000171199		0.303	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0.00	79	0	C	NM_021225		71265050	+1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	silent	11.11	72	9	SNP	0.375	T
PRPF4	9128	genome.wustl.edu	37	9	116038922	116038922	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:116038922G>T	ENST00000374198.4	+	2	227	c.125G>T	c.(124-126)cGt>cTt	p.R42L	PRPF4_ENST00000374199.4_Missense_Mutation_p.R41L|CDC26_ENST00000490408.1_5'Flank|CDC26_ENST00000374206.3_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458																																																	0													138.0	148.0	144.0					9																	116038922		2203	4300	6503	SO:0001583	missense	0			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.125G>T	9.37:g.116038922G>T	ENSP00000363313:p.Arg42Leu		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R42L	ENST00000374198.4	37	c.125	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.653797	0.96724	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.63913	-0.07;-0.02	5.97	5.97	0.96955	.	0.054263	0.85682	D	0.000000	T	0.69691	0.3139	L	0.60455	1.87	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.50570	0.644;0.644	T	0.71988	-0.4426	10	0.72032	D	0.01	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	57;42	Q59EL4;O43172	.;PRP4_HUMAN	L	41;42	ENSP00000363315:R41L;ENSP00000363313:R42L	ENSP00000363313:R42L	R	+	2	0	PRPF4	115078743	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.814000	0.91968	2.838000	0.97847	0.561000	0.74099	CGT	PRPF4	-	NULL	ENSG00000136875		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	-	0.00	65	0	G	NM_004697		116038922	+1	tier1	-	no_errors	ENST00000374198	ensembl	human	known	74_37	missense	23.08	69	21	SNP	1.000	T
PRRC2B	84726	genome.wustl.edu	37	9	134353920	134353920	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:134353920G>T	ENST00000357304.4	+	17	4727	c.4672G>T	c.(4672-4674)Gtg>Ttg	p.V1558L	PRRC2B_ENST00000458550.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1558							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGTTCTATGGTGGGCGAAGG	0.572											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126.0	134.0	131.0					9																	134353920		1901	4118	6019	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4672G>T	9.37:g.134353920G>T	ENSP00000349856:p.Val1558Leu	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.V1558L	ENST00000357304.4	37	c.4672	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.856517|1.856517	0.32791|0.32791	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02525	.|4.26;4.55;4.26	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.414784	.|0.17053	.|U	.|0.188843	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28055	.|0.144;0.199	.|B;B	.|0.29785	.|0.107;0.049	T|T	0.51601|0.51601	-0.8685|-0.8685	5|10	.|0.25751	.|T	.|0.34	-36.1137|-36.1137	13.8931|13.8931	0.63753|0.63753	0.0:0.1524:0.8475:0.0|0.0:0.1524:0.8475:0.0	.|.	.|291;1558	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	V|L	291|864;1558;864	.|ENSP00000384606:V864L;ENSP00000349856:V1558L;ENSP00000398853:V864L	.|ENSP00000349856:V1558L	G|V	+|+	2|1	0|0	PRRC2B|PRRC2B	133343741|133343741	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.670000|0.670000	0.39368|0.39368	3.275000|3.275000	0.51639|0.51639	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GGT|GTG	PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0.00	107	0	G			134353920	+1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.978	T
PRRC2B	84726	genome.wustl.edu	37	9	134353920	134353920	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:134353920G>T	ENST00000357304.4	+	17	4727	c.4672G>T	c.(4672-4674)Gtg>Ttg	p.V1558L	PRRC2B_ENST00000458550.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V864L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1558							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGTTCTATGGTGGGCGAAGG	0.572											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126.0	134.0	131.0					9																	134353920		1901	4118	6019	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4672G>T	9.37:g.134353920G>T	ENSP00000349856:p.Val1558Leu	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.V1558L	ENST00000357304.4	37	c.4672	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.856517|1.856517	0.32791|0.32791	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02525	.|4.26;4.55;4.26	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.414784	.|0.17053	.|U	.|0.188843	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28055	.|0.144;0.199	.|B;B	.|0.29785	.|0.107;0.049	T|T	0.51601|0.51601	-0.8685|-0.8685	5|10	.|0.25751	.|T	.|0.34	-36.1137|-36.1137	13.8931|13.8931	0.63753|0.63753	0.0:0.1524:0.8475:0.0|0.0:0.1524:0.8475:0.0	.|.	.|291;1558	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	V|L	291|864;1558;864	.|ENSP00000384606:V864L;ENSP00000349856:V1558L;ENSP00000398853:V864L	.|ENSP00000349856:V1558L	G|V	+|+	2|1	0|0	PRRC2B|PRRC2B	133343741|133343741	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.670000|0.670000	0.39368|0.39368	3.275000|3.275000	0.51639|0.51639	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GGT|GTG	PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0.00	90	0	G			134353920	+1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.978	T
PTPRM	5797	genome.wustl.edu	37	18	7774151	7774151	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:7774151C>A	ENST00000332175.8	+	2	1115	c.78C>A	c.(76-78)ggC>ggA	p.G26G	PTPRM_ENST00000400060.4_Silent_p.G26G|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000580170.1_Silent_p.G26G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	26	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTTAGGTGGCTGCCTCTTTG	0.398																																																	0													138.0	128.0	131.0					18																	7774151		2203	4300	6503	SO:0001819	synonymous_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.78C>A	18.37:g.7774151C>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G26	ENST00000332175.8	37	c.78	CCDS11840.1	18																																																																																			PTPRM	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000173482		0.398	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	91	0	C			7774151	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	silent	12.39	99	14	SNP	0.976	A
PTPRS	5802	genome.wustl.edu	37	19	5240212	5240212	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5240212C>T	ENST00000587303.1	-	11	1801	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PTPRS_ENST00000357368.4_Missense_Mutation_p.E568K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E555K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E555K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.E555K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E564K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E555K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E569K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCCTCACCTCCCGGCCATGG	0.682																																																	0													16.0	15.0	15.0					19																	5240212		2139	4173	6312	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1702G>A	19.37:g.5240212C>T	ENSP00000467537:p.Glu568Lys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.E569K	ENST00000587303.1	37	c.1705	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615688	0.66672	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	3.36	3.36	0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164913	0.38548	U	0.001647	T	0.43299	0.1241	L	0.33710	1.025	0.45541	D	0.998493	B;B;B;B;B;B	0.24618	0.0;0.0;0.004;0.079;0.107;0.0	B;B;B;B;B;B	0.28305	0.009;0.002;0.01;0.034;0.088;0.003	T	0.40440	-0.9563	10	0.35671	T	0.21	.	14.9445	0.71020	0.0:1.0:0.0:0.0	.	568;555;559;555;568;581	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	581;569;568;568;568;564;555;568;559;555	ENSP00000361489:E569K;ENSP00000349932:E568K;ENSP00000262963:E564K;ENSP00000269907:E555K;ENSP00000327313:E555K	ENSP00000262963:E564K	E	-	1	0	PTPRS	5191212	0.975000	0.34042	0.999000	0.59377	0.575000	0.36095	2.142000	0.42177	1.745000	0.51790	0.479000	0.44913	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.682	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0.00	100	0	C			5240212	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.997	T
PTPRS	5802	genome.wustl.edu	37	19	5240212	5240212	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5240212C>T	ENST00000587303.1	-	11	1801	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PTPRS_ENST00000357368.4_Missense_Mutation_p.E568K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E555K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E555K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.E555K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E564K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E555K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E569K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCCTCACCTCCCGGCCATGG	0.682																																																	0													16.0	15.0	15.0					19																	5240212		2139	4173	6312	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1702G>A	19.37:g.5240212C>T	ENSP00000467537:p.Glu568Lys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.E569K	ENST00000587303.1	37	c.1705	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615688	0.66672	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	3.36	3.36	0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164913	0.38548	U	0.001647	T	0.43299	0.1241	L	0.33710	1.025	0.45541	D	0.998493	B;B;B;B;B;B	0.24618	0.0;0.0;0.004;0.079;0.107;0.0	B;B;B;B;B;B	0.28305	0.009;0.002;0.01;0.034;0.088;0.003	T	0.40440	-0.9563	10	0.35671	T	0.21	.	14.9445	0.71020	0.0:1.0:0.0:0.0	.	568;555;559;555;568;581	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	581;569;568;568;568;564;555;568;559;555	ENSP00000361489:E569K;ENSP00000349932:E568K;ENSP00000262963:E564K;ENSP00000269907:E555K;ENSP00000327313:E555K	ENSP00000262963:E564K	E	-	1	0	PTPRS	5191212	0.975000	0.34042	0.999000	0.59377	0.575000	0.36095	2.142000	0.42177	1.745000	0.51790	0.479000	0.44913	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.682	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0.00	71	0	C			5240212	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.997	T
RABGGTB	5876	genome.wustl.edu	37	1	76253045	76253046	+	Intron	INS	-	-	A	rs3831900|rs397692920	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:76253045_76253046insA	ENST00000319942.3	+	2	74				RABGGTB_ENST00000370826.3_Intron|SNORD45A_ENST00000384512.1_RNA|SNORD45C_ENST00000383893.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						cctagtTAGTTACAATTTTTAA	0.441													A|A|AA|insertion	1049	0.209465	0.2905	0.2003	5008	,	,		18796	0.0228		0.3101	False		,,,				2504	0.1953																0																																										SO:0001627	intron_variant	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.4-136->A	1.37:g.76253046_76253046dupA			Q92697	RNA	INS	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-	ENSG00000137955		0.441	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1		0.00	11	0	-	NM_004582		76253046	+1	tier1		no_errors	ENST00000471759	ensembl	human	known	74_37	rna	42.86	8	6	INS	0.003:0.002	A
RAI14	26064	genome.wustl.edu	37	5	34796083	34796083	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:34796083C>A	ENST00000265109.3	+	4	494	c.207C>A	c.(205-207)ctC>ctA	p.L69L	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Silent_p.L72L|RAI14_ENST00000428746.2_Silent_p.L69L|RAI14_ENST00000503673.1_Silent_p.L69L|RAI14_ENST00000397449.1_Silent_p.L62L|RAI14_ENST00000512629.1_Silent_p.L69L|RAI14_ENST00000506376.1_Silent_p.L61L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	69						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L69L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGGAATGCCTCAGGGTCATGA	0.438																																																	1	Substitution - coding silent(1)	lung(1)											217.0	189.0	199.0					5																	34796083		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.207C>A	5.37:g.34796083C>A			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	NULL	p.S64*	ENST00000265109.3	37	c.191	CCDS34142.1	5																																																																																			RAI14	-	NULL	ENSG00000039560		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0.00	47	0	C	NM_015577		34796083	+1	tier1	-	no_errors	ENST00000508777	ensembl	human	known	74_37	nonsense	10.00	108	12	SNP	1.000	A
RAI14	26064	genome.wustl.edu	37	5	34796083	34796083	+	Silent	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:34796083C>A	ENST00000265109.3	+	4	494	c.207C>A	c.(205-207)ctC>ctA	p.L69L	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Silent_p.L72L|RAI14_ENST00000428746.2_Silent_p.L69L|RAI14_ENST00000503673.1_Silent_p.L69L|RAI14_ENST00000397449.1_Silent_p.L62L|RAI14_ENST00000512629.1_Silent_p.L69L|RAI14_ENST00000506376.1_Silent_p.L61L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	69						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L69L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGGAATGCCTCAGGGTCATGA	0.438																																																	1	Substitution - coding silent(1)	lung(1)											217.0	189.0	199.0					5																	34796083		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.207C>A	5.37:g.34796083C>A			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	NULL	p.S64*	ENST00000265109.3	37	c.191	CCDS34142.1	5																																																																																			RAI14	-	NULL	ENSG00000039560		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0.00	92	0	C	NM_015577		34796083	+1	tier1	-	no_errors	ENST00000508777	ensembl	human	known	74_37	nonsense	10.00	108	12	SNP	1.000	A
RAPGEF3	10411	genome.wustl.edu	37	12	48143256	48143256	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:48143256G>A	ENST00000449771.2	-	10	1046	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.P278S|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.P278S|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.P278S|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.P320S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.P320S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.P278S			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	320					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTGCCCGGGGTGCATCATTC	0.597																																																	0													98.0	86.0	90.0					12																	48143256		2203	4300	6503	SO:0001583	missense	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.958C>T	12.37:g.48143256G>A	ENSP00000395708:p.Pro320Ser		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.P320S	ENST00000449771.2	37	c.958	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646022	0.87958	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	4.28	4.28	0.50868	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.93763	3.455	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.99	D;P;P	0.67231	0.95;0.692;0.636	D	0.98198	1.0466	10	0.72032	D	0.01	.	15.8465	0.78895	0.0:0.0:1.0:0.0	.	332;320;320	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	S	278;320;278;278;278;320;332;278;320	ENSP00000384521:P278S;ENSP00000395708:P320S;ENSP00000448619:P278S;ENSP00000171000:P278S;ENSP00000373864:P320S;ENSP00000448480:P278S;ENSP00000378764:P320S	ENSP00000171000:P278S	P	-	1	0	RAPGEF3	46429523	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.067000	0.93955	2.396000	0.81511	0.650000	0.86243	CCC	RAPGEF3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	ENSG00000079337		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	-	0.00	78	0	G	NM_006105		48143256	-1	tier1	-	no_errors	ENST00000389212	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A
RARB	5915	genome.wustl.edu	37	3	25502759	25502759	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:25502759A>G	ENST00000404969.1	+	2	254	c.254A>G	c.(253-255)tAc>tGc	p.Y85C	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.Y78C|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	85	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTCGAGTGTACAAACCCTGC	0.527																																																	0													108.0	109.0	108.0					3																	25502759		2203	4300	6503	SO:0001583	missense	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.254A>G	3.37:g.25502759A>G	ENSP00000385865:p.Tyr85Cys		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Y85C	ENST00000404969.1	37	c.254		3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713844	0.89112	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92446	-2.83;-3.04;-3.03	5.71	5.71	0.89125	Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.95251	0.8360	10	0.59425	D	0.04	.	16.0288	0.80560	1.0:0.0:0.0:0.0	.	85;78	P10826;F1D8S6	RARB_HUMAN;.	C	85;85;85;78	ENSP00000373282:Y85C;ENSP00000385865:Y85C;ENSP00000332296:Y78C	ENSP00000332296:Y78C	Y	+	2	0	RARB	25477763	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.339000	0.96797	2.199000	0.70637	0.524000	0.50904	TAC	RARB	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000077092		0.527	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		-	0.00	56	0	A	NM_000965, NM_016152		25502759	+1	tier1	-	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	6.98	80	6	SNP	1.000	G
RARB	5915	genome.wustl.edu	37	3	25502759	25502759	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:25502759A>G	ENST00000404969.1	+	2	254	c.254A>G	c.(253-255)tAc>tGc	p.Y85C	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.Y78C|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	85	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTCGAGTGTACAAACCCTGC	0.527																																																	0													108.0	109.0	108.0					3																	25502759		2203	4300	6503	SO:0001583	missense	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.254A>G	3.37:g.25502759A>G	ENSP00000385865:p.Tyr85Cys		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Y85C	ENST00000404969.1	37	c.254		3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713844	0.89112	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92446	-2.83;-3.04;-3.03	5.71	5.71	0.89125	Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.95251	0.8360	10	0.59425	D	0.04	.	16.0288	0.80560	1.0:0.0:0.0:0.0	.	85;78	P10826;F1D8S6	RARB_HUMAN;.	C	85;85;85;78	ENSP00000373282:Y85C;ENSP00000385865:Y85C;ENSP00000332296:Y78C	ENSP00000332296:Y78C	Y	+	2	0	RARB	25477763	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.339000	0.96797	2.199000	0.70637	0.524000	0.50904	TAC	RARB	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000077092		0.527	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		-	0.00	70	0	A	NM_000965, NM_016152		25502759	+1	tier1	-	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	6.98	80	6	SNP	1.000	G
RASA1	5921	genome.wustl.edu	37	5	86681138	86681138	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:86681138G>T	ENST00000274376.6	+	22	3343	c.2779G>T	c.(2779-2781)Gca>Tca	p.A927S	RASA1_ENST00000456692.2_Missense_Mutation_p.A750S|RASA1_ENST00000512763.1_Missense_Mutation_p.A760S|RASA1_ENST00000506290.1_Missense_Mutation_p.A761S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	927	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCCTATTGCTGCAAGAACACT	0.353																																																	0													124.0	111.0	115.0					5																	86681138		2202	4300	6502	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2779G>T	5.37:g.86681138G>T	ENSP00000274376:p.Ala927Ser		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.A927S	ENST00000274376.6	37	c.2779	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614460	0.66672	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.56	5.56	0.83823	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.152316	0.64402	D	0.000020	T	0.64405	0.2595	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B;B	0.14012	0.001;0.003;0.001;0.0;0.009	B;B;B;B;B	0.18561	0.009;0.022;0.013;0.004;0.022	T	0.57476	-0.7805	10	0.29301	T	0.29	.	19.4995	0.95089	0.0:0.0:1.0:0.0	.	761;760;761;750;927	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	927;750;760;761	ENSP00000274376:A927S;ENSP00000411221:A750S;ENSP00000422008:A760S;ENSP00000420905:A761S	ENSP00000274376:A927S	A	+	1	0	RASA1	86716894	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.709000	0.84645	2.777000	0.95525	0.591000	0.81541	GCA	RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0.00	49	0	G	NM_002890		86681138	+1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
RASA1	5921	genome.wustl.edu	37	5	86681138	86681138	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:86681138G>T	ENST00000274376.6	+	22	3343	c.2779G>T	c.(2779-2781)Gca>Tca	p.A927S	RASA1_ENST00000456692.2_Missense_Mutation_p.A750S|RASA1_ENST00000512763.1_Missense_Mutation_p.A760S|RASA1_ENST00000506290.1_Missense_Mutation_p.A761S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	927	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCCTATTGCTGCAAGAACACT	0.353																																																	0													124.0	111.0	115.0					5																	86681138		2202	4300	6502	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2779G>T	5.37:g.86681138G>T	ENSP00000274376:p.Ala927Ser		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.A927S	ENST00000274376.6	37	c.2779	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614460	0.66672	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.56	5.56	0.83823	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.152316	0.64402	D	0.000020	T	0.64405	0.2595	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B;B	0.14012	0.001;0.003;0.001;0.0;0.009	B;B;B;B;B	0.18561	0.009;0.022;0.013;0.004;0.022	T	0.57476	-0.7805	10	0.29301	T	0.29	.	19.4995	0.95089	0.0:0.0:1.0:0.0	.	761;760;761;750;927	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	927;750;760;761	ENSP00000274376:A927S;ENSP00000411221:A750S;ENSP00000422008:A760S;ENSP00000420905:A761S	ENSP00000274376:A927S	A	+	1	0	RASA1	86716894	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.709000	0.84645	2.777000	0.95525	0.591000	0.81541	GCA	RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0.00	95	0	G	NM_002890		86681138	+1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
RASL11B	65997	genome.wustl.edu	37	4	53729462	53729462	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:53729462G>A	ENST00000248706.3	+	2	388	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTCACCAAACGATTCATCGGT	0.483																																																	0													123.0	100.0	108.0					4																	53729462		2203	4300	6503	SO:0001583	missense	0			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.170G>A	4.37:g.53729462G>A	ENSP00000248706:p.Arg57Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R57Q	ENST00000248706.3	37	c.170	CCDS3490.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.112443	0.97296	.	.	ENSG00000128045	ENST00000248706	T	0.76448	-1.02	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84662	0.0707	10	0.40728	T	0.16	.	18.174	0.89756	0.0:0.0:1.0:0.0	.	57	Q9BPW5	RSLBB_HUMAN	Q	57	ENSP00000248706:R57Q	ENSP00000248706:R57Q	R	+	2	0	RASL11B	53424219	1.000000	0.71417	0.891000	0.34965	0.911000	0.54048	9.403000	0.97302	2.524000	0.85096	0.655000	0.94253	CGA	RASL11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000128045		0.483	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11B	HGNC	protein_coding	OTTHUMT00000219931.2	-	0.00	71	0	G	NM_023940		53729462	+1	tier1	-	no_errors	ENST00000248706	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	A
RASL11B	65997	genome.wustl.edu	37	4	53729462	53729462	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:53729462G>A	ENST00000248706.3	+	2	388	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTCACCAAACGATTCATCGGT	0.483																																																	0													123.0	100.0	108.0					4																	53729462		2203	4300	6503	SO:0001583	missense	0			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.170G>A	4.37:g.53729462G>A	ENSP00000248706:p.Arg57Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R57Q	ENST00000248706.3	37	c.170	CCDS3490.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.112443	0.97296	.	.	ENSG00000128045	ENST00000248706	T	0.76448	-1.02	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84662	0.0707	10	0.40728	T	0.16	.	18.174	0.89756	0.0:0.0:1.0:0.0	.	57	Q9BPW5	RSLBB_HUMAN	Q	57	ENSP00000248706:R57Q	ENSP00000248706:R57Q	R	+	2	0	RASL11B	53424219	1.000000	0.71417	0.891000	0.34965	0.911000	0.54048	9.403000	0.97302	2.524000	0.85096	0.655000	0.94253	CGA	RASL11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000128045		0.483	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11B	HGNC	protein_coding	OTTHUMT00000219931.2	-	0.00	81	0	G	NM_023940		53729462	+1	tier1	-	no_errors	ENST00000248706	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	A
RBM44	375316	genome.wustl.edu	37	2	238728863	238728863	+	Missense_Mutation	SNP	G	G	T	rs558558647		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238728863G>T	ENST00000409864.1	+	5	2039	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	RBM44_ENST00000316997.4_Missense_Mutation_p.M595I|RBM44_ENST00000444524.2_3'UTR			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	594						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGCCATCAATGTGCTGTCAGA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		15915	0.001		0.0	False		,,,				2504	0.0																0													56.0	50.0	52.0					2																	238728863		1865	4107	5972	SO:0001583	missense	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1785G>T	2.37:g.238728863G>T	ENSP00000386727:p.Met595Ile		A0AUW3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M595I	ENST00000409864.1	37	c.1785	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753626	0.31046	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.92	0.439	0.16567	.	1.310940	0.04983	N	0.466013	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30621	-0.9972	10	0.27082	T	0.32	0.4355	5.9479	0.19229	0.3166:0.0:0.5544:0.129	.	594	Q6ZP01	RBM44_HUMAN	I	595	ENSP00000321179:M595I;ENSP00000386727:M595I	ENSP00000321179:M595I	M	+	3	0	RBM44	238393602	0.020000	0.18652	0.137000	0.22149	0.878000	0.50629	-0.005000	0.12855	0.122000	0.18314	0.467000	0.42956	ATG	RBM44	-	NULL	ENSG00000177483		0.338	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	-	0.00	58	0	G	NM_001080504		238728863	+1	tier1	-	no_errors	ENST00000316997	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.045	T
RBM44	375316	genome.wustl.edu	37	2	238728863	238728863	+	Missense_Mutation	SNP	G	G	T	rs558558647		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:238728863G>T	ENST00000409864.1	+	5	2039	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	RBM44_ENST00000316997.4_Missense_Mutation_p.M595I|RBM44_ENST00000444524.2_3'UTR			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	594						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGCCATCAATGTGCTGTCAGA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		15915	0.001		0.0	False		,,,				2504	0.0																0													56.0	50.0	52.0					2																	238728863		1865	4107	5972	SO:0001583	missense	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1785G>T	2.37:g.238728863G>T	ENSP00000386727:p.Met595Ile		A0AUW3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M595I	ENST00000409864.1	37	c.1785	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753626	0.31046	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.92	0.439	0.16567	.	1.310940	0.04983	N	0.466013	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30621	-0.9972	10	0.27082	T	0.32	0.4355	5.9479	0.19229	0.3166:0.0:0.5544:0.129	.	594	Q6ZP01	RBM44_HUMAN	I	595	ENSP00000321179:M595I;ENSP00000386727:M595I	ENSP00000321179:M595I	M	+	3	0	RBM44	238393602	0.020000	0.18652	0.137000	0.22149	0.878000	0.50629	-0.005000	0.12855	0.122000	0.18314	0.467000	0.42956	ATG	RBM44	-	NULL	ENSG00000177483		0.338	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	-	0.00	86	0	G	NM_001080504		238728863	+1	tier1	-	no_errors	ENST00000316997	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.045	T
RBMXL1	494115	genome.wustl.edu	37	1	89449059	89449059	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:89449059T>A	ENST00000321792.5	-	2	878	c.451A>T	c.(451-453)Aga>Tga	p.R151*	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000399794.2_Nonsense_Mutation_p.R151*|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	151					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGTGGTCCTCTTTTTACTGGG	0.512																																																	0													142.0	151.0	148.0					1																	89449059		2203	4300	6503	SO:0001587	stop_gained	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.451A>T	1.37:g.89449059T>A	ENSP00000318415:p.Arg151*			Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R151*	ENST00000321792.5	37	c.451	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	38	7.208758	0.98136	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	.	.	.	1.76	0.348	0.16026	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6438	4.7599	0.13102	0.2777:0.0:0.0:0.7222	.	.	.	.	X	151	.	ENSP00000318415:R151X	R	-	1	2	RBMXL1	89221647	1.000000	0.71417	0.772000	0.31596	0.948000	0.59901	1.301000	0.33447	-0.068000	0.12953	0.254000	0.18369	AGA	RBMXL1	-	NULL	ENSG00000213516		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0.00	63	0	T	NM_019610		89449059	-1	tier1	-	no_errors	ENST00000321792	ensembl	human	known	74_37	nonsense	12.36	78	11	SNP	1.000	A
RBMXL1	494115	genome.wustl.edu	37	1	89449059	89449059	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:89449059T>A	ENST00000321792.5	-	2	878	c.451A>T	c.(451-453)Aga>Tga	p.R151*	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000399794.2_Nonsense_Mutation_p.R151*|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	151					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGTGGTCCTCTTTTTACTGGG	0.512																																																	0													142.0	151.0	148.0					1																	89449059		2203	4300	6503	SO:0001587	stop_gained	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.451A>T	1.37:g.89449059T>A	ENSP00000318415:p.Arg151*			Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R151*	ENST00000321792.5	37	c.451	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	38	7.208758	0.98136	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	.	.	.	1.76	0.348	0.16026	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6438	4.7599	0.13102	0.2777:0.0:0.0:0.7222	.	.	.	.	X	151	.	ENSP00000318415:R151X	R	-	1	2	RBMXL1	89221647	1.000000	0.71417	0.772000	0.31596	0.948000	0.59901	1.301000	0.33447	-0.068000	0.12953	0.254000	0.18369	AGA	RBMXL1	-	NULL	ENSG00000213516		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0.00	90	0	T	NM_019610		89449059	-1	tier1	-	no_errors	ENST00000321792	ensembl	human	known	74_37	nonsense	12.36	78	11	SNP	1.000	A
RC3H2	54542	genome.wustl.edu	37	9	125652614	125652614	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:125652614C>A	ENST00000373670.1	-	3	1160	c.560G>T	c.(559-561)cGa>cTa	p.R187L	RC3H2_ENST00000423239.2_Missense_Mutation_p.R187L|RC3H2_ENST00000335387.5_Missense_Mutation_p.R187L|RC3H2_ENST00000373665.2_Missense_Mutation_p.R187L|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R187L|RC3H2_ENST00000471874.2_Missense_Mutation_p.R187L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	187	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGCATCCTCGAGCCCTGAC	0.478																																																	0													57.0	57.0	57.0					9																	125652614		1902	4122	6024	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.560G>T	9.37:g.125652614C>A	ENSP00000362774:p.Arg187Leu		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R187L	ENST00000373670.1	37	c.560	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.185322	0.94885	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;1.0;0.992	D;D;D;D	0.97110	0.999;0.931;1.0;0.969	D	0.96551	0.9408	10	0.40728	T	0.16	-28.7697	18.241	0.89967	0.0:1.0:0.0:0.0	.	187;187;187;187	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	L	187;187;58;187;187;187	ENSP00000362774:R187L;ENSP00000349783:R187L;ENSP00000411767:R187L;ENSP00000362769:R187L;ENSP00000335150:R187L	ENSP00000335150:R187L	R	-	2	0	RC3H2	124692435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.559000	0.86315	0.491000	0.48974	CGA	RC3H2	-	NULL	ENSG00000056586		0.478	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0.00	73	0	C	NM_018835		125652614	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	A
RCVRN	5957	genome.wustl.edu	37	17	9808472	9808472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:9808472delA	ENST00000226193.5	-	1	466	c.26delT	c.(25-27)ctgfs	p.L9fs		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	9					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTCCTTGGACAGGGCCCCACT	0.642																																																	0													21.0	21.0	21.0					17																	9808472		2203	4300	6503	SO:0001589	frameshift_variant	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.26delT	17.37:g.9808472delA	ENSP00000226193:p.Leu9fs		Q53XL0	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.L9fs	ENST00000226193.5	37	c.26	CCDS11151.1	17																																																																																			RCVRN	-	prints_Recoverin	ENSG00000109047		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2		0.00	11	0	A	NM_002903		9808472	-1	tier1		no_errors	ENST00000226193	ensembl	human	known	74_37	frame_shift_del	20.00	16	4	DEL	1.000	-
REXO1	57455	genome.wustl.edu	37	19	1816110	1816110	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:1816110G>T	ENST00000170168.4	-	16	3715	c.3621C>A	c.(3619-3621)caC>caA	p.H1207Q	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1207	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCACCAGGTGCATGCAGG	0.701																																																	0													70.0	43.0	52.0					19																	1816110		2126	4162	6288	SO:0001583	missense	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3621C>A	19.37:g.1816110G>T	ENSP00000170168:p.His1207Gln		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.H1207Q	ENST00000170168.4	37	c.3621	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301632	0.40694	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.20463	2.07	4.76	0.686	0.18015	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.112628	0.64402	D	0.000016	T	0.06826	0.0174	N	0.01277	-0.915	0.27190	N	0.960447	B;B	0.20988	0.012;0.05	B;B	0.28385	0.012;0.089	T	0.38542	-0.9656	10	0.22706	T	0.39	-30.7517	9.4376	0.38648	0.0:0.5174:0.2947:0.1878	.	516;1207	B4DWY3;Q8N1G1	.;REXO1_HUMAN	Q	1207;479	ENSP00000170168:H1207Q	ENSP00000170168:H1207Q	H	-	3	2	REXO1	1767110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.178000	0.42519	0.513000	0.28278	-0.225000	0.12378	CAC	REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000079313		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0.00	55	0	G	NM_020695		1816110	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T
REXO1	57455	genome.wustl.edu	37	19	1816110	1816110	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:1816110G>T	ENST00000170168.4	-	16	3715	c.3621C>A	c.(3619-3621)caC>caA	p.H1207Q	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1207	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCACCAGGTGCATGCAGG	0.701																																																	0													70.0	43.0	52.0					19																	1816110		2126	4162	6288	SO:0001583	missense	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3621C>A	19.37:g.1816110G>T	ENSP00000170168:p.His1207Gln		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.H1207Q	ENST00000170168.4	37	c.3621	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301632	0.40694	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.20463	2.07	4.76	0.686	0.18015	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.112628	0.64402	D	0.000016	T	0.06826	0.0174	N	0.01277	-0.915	0.27190	N	0.960447	B;B	0.20988	0.012;0.05	B;B	0.28385	0.012;0.089	T	0.38542	-0.9656	10	0.22706	T	0.39	-30.7517	9.4376	0.38648	0.0:0.5174:0.2947:0.1878	.	516;1207	B4DWY3;Q8N1G1	.;REXO1_HUMAN	Q	1207;479	ENSP00000170168:H1207Q	ENSP00000170168:H1207Q	H	-	3	2	REXO1	1767110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.178000	0.42519	0.513000	0.28278	-0.225000	0.12378	CAC	REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000079313		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0.00	91	0	G	NM_020695		1816110	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T
RIMS1	22999	genome.wustl.edu	37	6	72806711	72806711	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:72806711C>T	ENST00000521978.1	+	3	305	c.305C>T	c.(304-306)gCg>gTg	p.A102V	RIMS1_ENST00000348717.5_Missense_Mutation_p.A102V|RIMS1_ENST00000518273.1_Missense_Mutation_p.A102V|RIMS1_ENST00000522291.1_Missense_Mutation_p.A102V|RIMS1_ENST00000264839.7_Missense_Mutation_p.A102V|RIMS1_ENST00000517960.1_Missense_Mutation_p.A102V|RIMS1_ENST00000491071.2_Missense_Mutation_p.A102V|RIMS1_ENST00000520567.1_Missense_Mutation_p.A102V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	102	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGGAAGAAGCGCGGCGTTAC	0.438																																																	0													82.0	77.0	79.0					6																	72806711		1931	4135	6066	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.305C>T	6.37:g.72806711C>T	ENSP00000428417:p.Ala102Val		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.A102V	ENST00000521978.1	37	c.305	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989241	0.93106	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.093571	0.45361	D	0.000364	T	0.20941	0.0504	L	0.55481	1.735	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	T	0.06607	-1.0817	10	0.51188	T	0.08	-17.8794	20.0804	0.97772	0.0:1.0:0.0:0.0	.	102	Q86UR5	RIMS1_HUMAN	V	102	ENSP00000430101:A102V;ENSP00000275037:A102V;ENSP00000264839:A102V;ENSP00000429959:A102V;ENSP00000430408:A102V;ENSP00000430502:A102V;ENSP00000430932:A102V;ENSP00000428417:A102V	ENSP00000264839:A102V	A	+	2	0	RIMS1	72863432	1.000000	0.71417	0.964000	0.40570	0.745000	0.42441	7.798000	0.85924	2.738000	0.93877	0.655000	0.94253	GCG	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.438	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	66	0	C			72806711	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T
RIMS1	22999	genome.wustl.edu	37	6	72892087	72892087	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:72892087G>A	ENST00000521978.1	+	6	913	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	RIMS1_ENST00000348717.5_Missense_Mutation_p.V305I|RIMS1_ENST00000518273.1_Missense_Mutation_p.V305I|RIMS1_ENST00000522291.1_Missense_Mutation_p.V305I|RIMS1_ENST00000264839.7_Missense_Mutation_p.V305I|RIMS1_ENST00000517960.1_Missense_Mutation_p.V305I|RIMS1_ENST00000491071.2_Missense_Mutation_p.V305I|RIMS1_ENST00000520567.1_Missense_Mutation_p.V305I	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	305					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAGGGGGCCGTCGAAGAACG	0.597																																																	0													31.0	38.0	36.0					6																	72892087		1893	4117	6010	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.913G>A	6.37:g.72892087G>A	ENSP00000428417:p.Val305Ile		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.V305I	ENST00000521978.1	37	c.913	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	2.852	-0.238072	0.05944	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.14022	2.54;2.69;2.62;2.69;2.69;2.69;2.69;2.61	4.77	1.78	0.24846	.	1.436020	0.04501	N	0.381335	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.15870	0.014	T	0.41945	-0.9480	10	0.45353	T	0.12	1.1488	1.4719	0.02418	0.283:0.144:0.4259:0.1472	.	305	Q86UR5	RIMS1_HUMAN	I	305	ENSP00000430101:V305I;ENSP00000275037:V305I;ENSP00000264839:V305I;ENSP00000429959:V305I;ENSP00000430408:V305I;ENSP00000430502:V305I;ENSP00000430932:V305I;ENSP00000428417:V305I	ENSP00000264839:V305I	V	+	1	0	RIMS1	72948808	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.025000	0.13577	0.426000	0.26116	0.462000	0.41574	GTC	RIMS1	-	NULL	ENSG00000079841		0.597	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0.00	93	0	G			72892087	+1			no_errors	ENST00000521978	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	A
RNF111	54778	genome.wustl.edu	37	15	59383298	59383298	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:59383298G>A	ENST00000557998.1	+	12	2971	c.2684G>A	c.(2683-2685)cGt>cAt	p.R895H	RNF111_ENST00000559209.1_Missense_Mutation_p.R904H|RNF111_ENST00000348370.4_Missense_Mutation_p.R895H|RNF111_ENST00000561186.1_Missense_Mutation_p.R904H|RNF111_ENST00000434298.1_Missense_Mutation_p.R904H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	895					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AATGTCAATCGTGGAGCATCC	0.353																																					NSCLC(72;983 1365 10746 34387 47081)												0													131.0	135.0	134.0					15																	59383298		2192	4290	6482	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2684G>A	15.37:g.59383298G>A	ENSP00000452732:p.Arg895His		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R904H	ENST00000557998.1	37	c.2711	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.381989	0.95967	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.15;2.14	5.33	5.33	0.75918	.	0.056545	0.64402	D	0.000001	T	0.40791	0.1131	L	0.47190	1.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;P;D	0.65010	0.923;0.791;0.931	T	0.13019	-1.0525	10	0.87932	D	0	-22.6303	19.2207	0.93795	0.0:0.0:1.0:0.0	.	904;895;895	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	895;904	ENSP00000288199:R895H;ENSP00000393641:R904H	ENSP00000288199:R895H	R	+	2	0	RNF111	57170590	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.768000	0.95171	0.650000	0.86243	CGT	RNF111	-	NULL	ENSG00000157450		0.353	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0.00	41	0	G	NM_017610		59383298	+1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A
RNF111	54778	genome.wustl.edu	37	15	59383298	59383298	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:59383298G>A	ENST00000557998.1	+	12	2971	c.2684G>A	c.(2683-2685)cGt>cAt	p.R895H	RNF111_ENST00000559209.1_Missense_Mutation_p.R904H|RNF111_ENST00000348370.4_Missense_Mutation_p.R895H|RNF111_ENST00000561186.1_Missense_Mutation_p.R904H|RNF111_ENST00000434298.1_Missense_Mutation_p.R904H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	895					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AATGTCAATCGTGGAGCATCC	0.353																																					NSCLC(72;983 1365 10746 34387 47081)												0													131.0	135.0	134.0					15																	59383298		2192	4290	6482	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2684G>A	15.37:g.59383298G>A	ENSP00000452732:p.Arg895His		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R904H	ENST00000557998.1	37	c.2711	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.381989	0.95967	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.15;2.14	5.33	5.33	0.75918	.	0.056545	0.64402	D	0.000001	T	0.40791	0.1131	L	0.47190	1.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;P;D	0.65010	0.923;0.791;0.931	T	0.13019	-1.0525	10	0.87932	D	0	-22.6303	19.2207	0.93795	0.0:0.0:1.0:0.0	.	904;895;895	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	895;904	ENSP00000288199:R895H;ENSP00000393641:R904H	ENSP00000288199:R895H	R	+	2	0	RNF111	57170590	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.768000	0.95171	0.650000	0.86243	CGT	RNF111	-	NULL	ENSG00000157450		0.353	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0.00	60	0	G	NM_017610		59383298	+1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A
RNF167	26001	genome.wustl.edu	37	17	4847881	4847881	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:4847881C>T	ENST00000262482.6	+	9	1355	c.699C>T	c.(697-699)tgC>tgT	p.C233C	RNF167_ENST00000571816.1_Silent_p.C233C|RNF167_ENST00000572430.1_Silent_p.C233C|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000575111.1_Silent_p.C233C|RNF167_ENST00000576229.1_Silent_p.C198C	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	233					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GTGCCATTTGCCTGGATGAAT	0.542																																																	0													135.0	113.0	120.0					17																	4847881		2203	4300	6503	SO:0001819	synonymous_variant	0			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.699C>T	17.37:g.4847881C>T			D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.C233	ENST00000262482.6	37	c.699	CCDS11060.1	17																																																																																			RNF167	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	ENSG00000108523		0.542	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0.00	48	0	C	NM_015528		4847881	+1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	silent	5.71	65	4	SNP	1.000	T
RNF167	26001	genome.wustl.edu	37	17	4847881	4847881	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:4847881C>T	ENST00000262482.6	+	9	1355	c.699C>T	c.(697-699)tgC>tgT	p.C233C	RNF167_ENST00000571816.1_Silent_p.C233C|RNF167_ENST00000572430.1_Silent_p.C233C|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000575111.1_Silent_p.C233C|RNF167_ENST00000576229.1_Silent_p.C198C	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	233					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GTGCCATTTGCCTGGATGAAT	0.542																																																	0													135.0	113.0	120.0					17																	4847881		2203	4300	6503	SO:0001819	synonymous_variant	0			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.699C>T	17.37:g.4847881C>T			D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.C233	ENST00000262482.6	37	c.699	CCDS11060.1	17																																																																																			RNF167	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	ENSG00000108523		0.542	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0.00	90	0	C	NM_015528		4847881	+1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	silent	5.71	65	4	SNP	1.000	T
RNGTT	8732	genome.wustl.edu	37	6	89614444	89614444	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:89614444C>T	ENST00000369485.4	-	6	860	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	RNGTT_ENST00000369475.3_Missense_Mutation_p.R225Q|RNGTT_ENST00000265607.6_Missense_Mutation_p.R225Q|RNGTT_ENST00000538899.1_Missense_Mutation_p.R165Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	225					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CAGTTTTAACCGTTCTTTTCT	0.343																																																	0													60.0	58.0	59.0					6																	89614444		2203	4300	6503	SO:0001583	missense	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.674G>A	6.37:g.89614444C>T	ENSP00000358497:p.Arg225Gln		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase	p.R225Q	ENST00000369485.4	37	c.674	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962532	0.34659	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.30714	1.96;1.96;1.96;1.52	5.56	5.56	0.83823	.	0.098843	0.64402	D	0.000004	T	0.13543	0.0328	L	0.53249	1.67	0.45015	D	0.99803	B;B;B;B	0.17667	0.023;0.017;0.017;0.01	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.04593	-1.0940	10	0.10377	T	0.69	.	12.4132	0.55480	0.0:0.8801:0.0:0.1199	.	165;225;225;225	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	Q	225;225;165;196;225	ENSP00000358497:R225Q;ENSP00000265607:R225Q;ENSP00000442609:R165Q;ENSP00000358487:R225Q	ENSP00000265607:R225Q	R	-	2	0	RNGTT	89671163	0.974000	0.33945	1.000000	0.80357	0.988000	0.76386	2.190000	0.42630	2.613000	0.88420	0.655000	0.94253	CGG	RNGTT	-	pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.343	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	-	0.00	122	0	C			89614444	-1	tier1	-	no_errors	ENST00000369485	ensembl	human	known	74_37	missense	11.71	98	13	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77623656	77623656	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:77623656C>T	ENST00000461745.1	+	14	2878	c.1978C>T	c.(1978-1980)Cgc>Tgc	p.R660C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R660C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R676C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGGTTGATCGCCAACCCCA	0.428																																																	0													95.0	84.0	88.0					3																	77623656		1911	4110	6021	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1978C>T	3.37:g.77623656C>T	ENSP00000417164:p.Arg660Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R660C	ENST00000461745.1	37	c.1978	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153354	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58506	0.33;0.33;0.33	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.76263	0.3963	M	0.69823	2.125	0.47214	D	0.999358	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71414	0.969;0.973;0.969	T	0.76495	-0.2938	9	0.56958	D	0.05	.	19.8397	0.96678	0.0:1.0:0.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	676;676;680;660;660;381	ENSP00000417335:R676C;ENSP00000417164:R660C;ENSP00000327536:R660C	ENSP00000327536:R660C	R	+	1	0	ROBO2	77706346	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.814000	0.86154	2.685000	0.91497	0.591000	0.81541	CGC	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	77	0	C	XM_031246		77623656	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77623656	77623656	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:77623656C>T	ENST00000461745.1	+	14	2878	c.1978C>T	c.(1978-1980)Cgc>Tgc	p.R660C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R660C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R676C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGGTTGATCGCCAACCCCA	0.428																																																	0													95.0	84.0	88.0					3																	77623656		1911	4110	6021	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1978C>T	3.37:g.77623656C>T	ENSP00000417164:p.Arg660Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R660C	ENST00000461745.1	37	c.1978	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153354	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58506	0.33;0.33;0.33	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.76263	0.3963	M	0.69823	2.125	0.47214	D	0.999358	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71414	0.969;0.973;0.969	T	0.76495	-0.2938	9	0.56958	D	0.05	.	19.8397	0.96678	0.0:1.0:0.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	676;676;680;660;660;381	ENSP00000417335:R676C;ENSP00000417164:R660C;ENSP00000327536:R660C	ENSP00000327536:R660C	R	+	1	0	ROBO2	77706346	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.814000	0.86154	2.685000	0.91497	0.591000	0.81541	CGC	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	82	0	C	XM_031246		77623656	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T
ROR2	4920	genome.wustl.edu	37	9	94484837	94484837	+	IGR	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:94484837C>T	ENST00000375708.3	-	0	4096				ROR2_ENST00000375715.1_Missense_Mutation_p.R649K|ROR2_ENST00000550066.1_5'Flank	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGCACTGCCTCCCGCTGCC	0.522																																																	0													164.0	148.0	153.0					9																	94484837		876	1991	2867	SO:0001628	intergenic_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211		9.37:g.94484837C>T			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R649K	ENST00000375708.3	37	c.1946	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.491004	0.04322	.	.	ENSG00000169071	ENST00000375715	T	0.76316	-1.01	2.21	-1.95	0.07548	.	.	.	.	.	T	0.44726	0.1307	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36529	-0.9744	8	0.05833	T	0.94	.	0.639	0.00807	0.208:0.2694:0.3257:0.1969	.	649	B1APY4	.	K	649	ENSP00000364867:R649K	ENSP00000364867:R649K	R	-	2	0	ROR2	93524658	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.290000	0.18975	-0.503000	0.06586	0.462000	0.41574	AGG	ROR2	-	NULL	ENSG00000169071		0.522	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0.00	54	0	C			94484837	-1	tier1	-	no_errors	ENST00000375715	ensembl	human	putative	74_37	missense	13.33	52	8	SNP	0.000	T
RPL36	25873	genome.wustl.edu	37	19	5691411	5691411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5691411G>T	ENST00000577222.1	+	5	719	c.175G>T	c.(175-177)Gag>Tag	p.E59*	RPL36_ENST00000579649.1_Nonsense_Mutation_p.E59*|RPL36_ENST00000347512.3_Nonsense_Mutation_p.E59*|RPL36_ENST00000394580.2_Nonsense_Mutation_p.E59*|RPL36_ENST00000579446.1_Nonsense_Mutation_p.E59*			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	59					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GCGCGCCATGGAGTTACTGAA	0.617											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	65.0	63.0					19																	5691411		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.175G>T	19.37:g.5691411G>T	ENSP00000464342:p.Glu59*	628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Nonsense_Mutation	SNP	pfam_Ribosomal_L36e	p.E59*	ENST00000577222.1	37	c.175	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318689	0.60524	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.284	0.66232	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000252543:E59X	E	+	1	0	RPL36	5642411	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.721000	0.84768	1.942000	0.56320	0.467000	0.42956	GAG	RPL36	-	pfam_Ribosomal_L36e	ENSG00000130255		0.617	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	-	0.00	116	0	G	NM_015414		5691411	+1	tier1	-	no_errors	ENST00000347512	ensembl	human	known	74_37	nonsense	8.82	92	9	SNP	1.000	T
RPL36	25873	genome.wustl.edu	37	19	5691411	5691411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:5691411G>T	ENST00000577222.1	+	5	719	c.175G>T	c.(175-177)Gag>Tag	p.E59*	RPL36_ENST00000579649.1_Nonsense_Mutation_p.E59*|RPL36_ENST00000347512.3_Nonsense_Mutation_p.E59*|RPL36_ENST00000394580.2_Nonsense_Mutation_p.E59*|RPL36_ENST00000579446.1_Nonsense_Mutation_p.E59*			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	59					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GCGCGCCATGGAGTTACTGAA	0.617											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	65.0	63.0					19																	5691411		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.175G>T	19.37:g.5691411G>T	ENSP00000464342:p.Glu59*	628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Nonsense_Mutation	SNP	pfam_Ribosomal_L36e	p.E59*	ENST00000577222.1	37	c.175	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318689	0.60524	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.284	0.66232	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000252543:E59X	E	+	1	0	RPL36	5642411	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.721000	0.84768	1.942000	0.56320	0.467000	0.42956	GAG	RPL36	-	pfam_Ribosomal_L36e	ENSG00000130255		0.617	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	-	0.00	173	0	G	NM_015414		5691411	+1	tier1	-	no_errors	ENST00000347512	ensembl	human	known	74_37	nonsense	8.82	92	9	SNP	1.000	T
RSPH10B	222967	genome.wustl.edu	37	7	6006528	6006528	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:6006528C>T	ENST00000405415.1	-	2	606	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RSPH10B_ENST00000404406.1_Missense_Mutation_p.E74K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E74K|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E74K			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	74										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATGGACTCTTCGTATTGGGTG	0.473																																																	0													209.0	148.0	169.0					7																	6006528		2093	3803	5896	SO:0001583	missense	0				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.220G>A	7.37:g.6006528C>T	ENSP00000385443:p.Glu74Lys		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E74K	ENST00000405415.1	37	c.220	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315059	0.81358	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.38	5.38	0.77491	.	0.194531	0.33553	N	0.004798	T	0.67664	0.2917	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.66156	-0.5994	10	0.32370	T	0.25	.	14.2619	0.66090	0.0:0.85:0.15:0.0	.	74	P0C881	R10B1_HUMAN	K	74	ENSP00000385443:E74K;ENSP00000384097:E74K;ENSP00000338556:E74K;ENSP00000400988:E74K	ENSP00000338556:E74K	E	-	1	0	RSPH10B	5973054	0.995000	0.38212	0.933000	0.37362	0.644000	0.38419	4.331000	0.59273	2.530000	0.85305	0.561000	0.74099	GAA	RSPH10B	-	NULL	ENSG00000155026		0.473	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	-	0.00	277	0	C	NM_173565		6006528	-1	tier1	-	no_errors	ENST00000337579	ensembl	human	known	74_37	missense	6.52	301	21	SNP	0.968	T
RYR1	6261	genome.wustl.edu	37	19	39061283	39061283	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:39061283C>T	ENST00000359596.3	+	94	13696	c.13696C>T	c.(13696-13698)Ctt>Ttt	p.L4566F	RYR1_ENST00000360985.3_Missense_Mutation_p.L4561F|RYR1_ENST00000355481.4_Missense_Mutation_p.L4561F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4566					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTGCGGTTCCTTGCCCTCTT	0.507																																																	0													207.0	195.0	199.0					19																	39061283		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13696C>T	19.37:g.39061283C>T	ENSP00000352608:p.Leu4566Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4566F	ENST00000359596.3	37	c.13696	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213107	0.39102	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95756	-3.8;-3.8;-3.8	5.1	5.1	0.69264	Ryanodine Receptor TM 4-6 (1);	0.000000	0.53938	U	0.000057	D	0.97760	0.9265	M	0.82323	2.585	0.46609	D	0.999124	D;D	0.76494	0.999;0.999	D;D	0.75020	0.974;0.985	D	0.98314	1.0525	10	0.72032	D	0.01	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	4561;4566	P21817-2;P21817	.;RYR1_HUMAN	F	4566;4561;4561	ENSP00000352608:L4566F;ENSP00000347667:L4561F;ENSP00000354254:L4561F	ENSP00000347667:L4561F	L	+	1	0	RYR1	43753123	0.810000	0.29049	0.995000	0.50966	0.983000	0.72400	0.596000	0.24044	2.659000	0.90383	0.561000	0.74099	CTT	RYR1	-	pfam_Ryanrecept_TM4-6	ENSG00000196218		0.507	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0.00	77	0	C			39061283	+1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	17.28	67	14	SNP	1.000	T
RSPH6A	81492	genome.wustl.edu	37	19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T	rs553772648		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:46313896C>T	ENST00000221538.3	-	2	995	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S|RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	285						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTTCAGTGCCGCCTCCACTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18027	0.0		0.0	False		,,,				2504	0.0																0													175.0	157.0	163.0					19																	46313896		2203	4300	6503	SO:0001583	missense	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.853G>A	19.37:g.46313896C>T	ENSP00000221538:p.Gly285Ser		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.G285S	ENST00000221538.3	37	c.853	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367457	0.11352	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.25	0.85	0.18980	.	0.782162	0.10588	N	0.657117	T	0.12050	0.0293	L	0.52126	1.63	0.09310	N	1	B	0.28178	0.202	B	0.22152	0.038	T	0.38045	-0.9679	10	0.10636	T	0.68	-6.814	5.1443	0.14977	0.0:0.6827:0.0:0.3173	.	285	Q9H0K4	RSH6A_HUMAN	S	285	ENSP00000221538:G285S	ENSP00000221538:G285S	G	-	1	0	RSPH6A	51005736	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.045000	0.12003	0.292000	0.22492	0.650000	0.86243	GGC	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0.00	59	0	C			46313896	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.001	T
SALL1	6299	genome.wustl.edu	37	16	51171162	51171162	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:51171162G>A	ENST00000251020.4	-	3	3869	c.3836C>T	c.(3835-3837)aCg>aTg	p.T1279M	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.T1182M|SALL1_ENST00000541611.1_Missense_Mutation_p.T102M	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1279					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGTTTCCCGTCAGCCCACT	0.582																																					GBM(103;1352 1446 1855 4775 8890)												0													72.0	69.0	70.0					16																	51171162		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3836C>T	16.37:g.51171162G>A	ENSP00000251020:p.Thr1279Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1279M	ENST00000251020.4	37	c.3836	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120872	0.56613	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56103	0.48;0.48;0.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.962;0.973	T	0.66280	-0.5963	10	0.59425	D	0.04	.	20.0486	0.97617	0.0:0.0:1.0:0.0	.	1279;102	Q9NSC2;F5H733	SALL1_HUMAN;.	M	1279;1182;1243;102	ENSP00000251020:T1279M;ENSP00000407914:T1182M;ENSP00000442827:T102M	ENSP00000251020:T1279M	T	-	2	0	SALL1	49728663	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	8.040000	0.89188	2.752000	0.94435	0.643000	0.83706	ACG	SALL1	-	NULL	ENSG00000103449		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	72	0	G	NM_002968		51171162	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51171162	51171162	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:51171162G>A	ENST00000251020.4	-	3	3869	c.3836C>T	c.(3835-3837)aCg>aTg	p.T1279M	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.T1182M|SALL1_ENST00000541611.1_Missense_Mutation_p.T102M	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1279					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGTTTCCCGTCAGCCCACT	0.582																																					GBM(103;1352 1446 1855 4775 8890)												0													72.0	69.0	70.0					16																	51171162		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3836C>T	16.37:g.51171162G>A	ENSP00000251020:p.Thr1279Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1279M	ENST00000251020.4	37	c.3836	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120872	0.56613	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56103	0.48;0.48;0.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.962;0.973	T	0.66280	-0.5963	10	0.59425	D	0.04	.	20.0486	0.97617	0.0:0.0:1.0:0.0	.	1279;102	Q9NSC2;F5H733	SALL1_HUMAN;.	M	1279;1182;1243;102	ENSP00000251020:T1279M;ENSP00000407914:T1182M;ENSP00000442827:T102M	ENSP00000251020:T1279M	T	-	2	0	SALL1	49728663	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	8.040000	0.89188	2.752000	0.94435	0.643000	0.83706	ACG	SALL1	-	NULL	ENSG00000103449		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	88	0	G	NM_002968		51171162	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51173271	51173271	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:51173271G>A	ENST00000251020.4	-	2	2895	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.S857S|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	954					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S954S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCAAACTCGCTTGGGACCG	0.517																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - coding silent(1)	lung(1)											71.0	55.0	61.0					16																	51173271		2198	4300	6498	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2862C>T	16.37:g.51173271G>A			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S954	ENST00000251020.4	37	c.2862	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2		0.00	25	0	G	NM_002968		51173271	-1			no_errors	ENST00000251020	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.020	A
SASH1	23328	genome.wustl.edu	37	6	148865205	148865205	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:148865205G>A	ENST00000367467.3	+	18	3074	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572																																																	0													117.0	128.0	125.0					6																	148865205		2203	4300	6503	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2599G>A	6.37:g.148865205G>A	ENSP00000356437:p.Glu867Lys		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E867K	ENST00000367467.3	37	c.2599	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	g	7.340	0.620633	0.14193	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37915	1.17	5.36	0.398	0.16319	.	0.649242	0.16053	N	0.231867	T	0.12220	0.0297	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.31943	-0.9925	10	0.31617	T	0.26	-7.3983	9.6094	0.39654	0.1472:0.2079:0.645:0.0	.	848;867	Q6P4R9;O94885	.;SASH1_HUMAN	K	867;628;277	ENSP00000356437:E867K	ENSP00000356437:E867K	E	+	1	0	SASH1	148906898	0.951000	0.32395	0.011000	0.14972	0.003000	0.03518	1.486000	0.35530	-0.499000	0.06623	-1.811000	0.00612	GAA	SASH1	-	NULL	ENSG00000111961		0.572	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1		0.00	32	0	G	NM_015278		148865205	+1			no_errors	ENST00000367467	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.074	A
SCN11A	11280	genome.wustl.edu	37	3	38888478	38888478	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:38888478C>T	ENST00000302328.3	-	26	5281	c.5083G>A	c.(5083-5085)Ggt>Agt	p.G1695S	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1657S|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1695S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1695					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGAGCCACCGAGTACCCTA	0.453																																																	0													131.0	130.0	130.0					3																	38888478		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5083G>A	3.37:g.38888478C>T	ENSP00000307599:p.Gly1695Ser		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.G1695S	ENST00000302328.3	37	c.5083	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576756	0.65878	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96940	-4.18;-4.18;-4.15	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.87456	2.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99564	1.0969	10	0.87932	D	0	.	18.4574	0.90725	0.0:1.0:0.0:0.0	.	1695	Q9UI33	SCNBA_HUMAN	S	1695;1695;1657	ENSP00000307599:G1695S;ENSP00000400945:G1695S;ENSP00000416757:G1657S	ENSP00000307599:G1695S	G	-	1	0	SCN11A	38863482	1.000000	0.71417	0.095000	0.20976	0.005000	0.04900	7.767000	0.85331	2.335000	0.79485	0.650000	0.86243	GGT	SCN11A	-	NULL	ENSG00000168356		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4		0.00	29	0	C	NM_014139		38888478	-1			no_errors	ENST00000302328	ensembl	human	known	74_37	missense	7.69	23	2	SNP	1.000	T
SELV	348303	genome.wustl.edu	37	19	40006462	40006462	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:40006462G>A	ENST00000335426.4	+	1	710	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	SELV_ENST00000423711.1_Missense_Mutation_p.G204R	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		204					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAACTCACCCGGGCCCACCCT	0.741																																																	0													6.0	8.0	7.0					19																	40006462		1731	3806	5537	SO:0001583	missense	0																														ENST00000335426.4:c.610G>A	19.37:g.40006462G>A	ENSP00000333956:p.Gly204Arg		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.G204R	ENST00000335426.4	37	c.610	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619605	0.28801	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.47869	0.83;0.83	2.89	2.89	0.33648	.	.	.	.	.	T	0.37517	0.1006	L	0.48642	1.525	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.17684	-1.0361	9	0.18276	T	0.48	-3.7205	9.9676	0.41734	0.0:0.0:1.0:0.0	.	204	P59797	SELV_HUMAN	R	204	ENSP00000333956:G204R;ENSP00000412508:G204R	ENSP00000333956:G204R	G	+	1	0	AC011500.1	44698302	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.563000	0.23547	1.597000	0.50072	0.449000	0.29647	GGG	SELV	-	NULL	ENSG00000186838		0.741	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1	-	0.00	49	0	G			40006462	+1	tier1	-	no_errors	ENST00000423711	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.013	A
SEMA3D	223117	genome.wustl.edu	37	7	84727257	84727257	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:84727257A>T	ENST00000284136.6	-	2	219	c.176T>A	c.(175-177)aTt>aAt	p.I59N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.I59N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	59	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAAAAAGGGAATACAGCTATT	0.383																																					Ovarian(63;442 1191 17318 29975 31528)												0													79.0	83.0	82.0					7																	84727257		2203	4299	6502	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.176T>A	7.37:g.84727257A>T	ENSP00000284136:p.Ile59Asn		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I59N	ENST00000284136.6	37	c.176	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010555	0.35511	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.22945	1.93;1.93	5.55	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.651645	0.17310	N	0.178909	T	0.20333	0.0489	L	0.39898	1.24	0.43222	D	0.995102	B;B	0.24132	0.098;0.091	B;B	0.21917	0.037;0.013	T	0.03148	-1.1067	10	0.15952	T	0.53	.	11.438	0.50078	0.9295:0.0:0.0705:0.0	.	59;59	C9JYT6;O95025	.;SEM3D_HUMAN	N	59	ENSP00000284136:I59N;ENSP00000401366:I59N	ENSP00000284136:I59N	I	-	2	0	SEMA3D	84565193	0.999000	0.42202	0.840000	0.33206	0.968000	0.65278	4.392000	0.59659	1.056000	0.40484	0.477000	0.44152	ATT	SEMA3D	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0.00	39	0	A	NM_152754		84727257	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.971	T
SEMA3D	223117	genome.wustl.edu	37	7	84727257	84727257	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:84727257A>T	ENST00000284136.6	-	2	219	c.176T>A	c.(175-177)aTt>aAt	p.I59N	SEMA3D_ENST00000444867.1_Missense_Mutation_p.I59N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	59	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAAAAAGGGAATACAGCTATT	0.383																																					Ovarian(63;442 1191 17318 29975 31528)												0													79.0	83.0	82.0					7																	84727257		2203	4299	6502	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.176T>A	7.37:g.84727257A>T	ENSP00000284136:p.Ile59Asn		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I59N	ENST00000284136.6	37	c.176	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010555	0.35511	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.22945	1.93;1.93	5.55	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.651645	0.17310	N	0.178909	T	0.20333	0.0489	L	0.39898	1.24	0.43222	D	0.995102	B;B	0.24132	0.098;0.091	B;B	0.21917	0.037;0.013	T	0.03148	-1.1067	10	0.15952	T	0.53	.	11.438	0.50078	0.9295:0.0:0.0705:0.0	.	59;59	C9JYT6;O95025	.;SEM3D_HUMAN	N	59	ENSP00000284136:I59N;ENSP00000401366:I59N	ENSP00000284136:I59N	I	-	2	0	SEMA3D	84565193	0.999000	0.42202	0.840000	0.33206	0.968000	0.65278	4.392000	0.59659	1.056000	0.40484	0.477000	0.44152	ATT	SEMA3D	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0.00	44	0	A	NM_152754		84727257	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.971	T
SEMA5A	9037	genome.wustl.edu	37	5	9202161	9202161	+	Missense_Mutation	SNP	G	G	A	rs372067295		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr5:9202161G>A	ENST00000382496.5	-	9	1503	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	280	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R280S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCCAGGACGGGAGCAGTTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		16461	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	CYS/ARG	0,4406		0,0,2203	84.0	78.0	80.0		838	5.8	1.0	5		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA5A	NM_003966.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	280/1075	9202161	1,13005	2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.838C>T	5.37:g.9202161G>A	ENSP00000371936:p.Arg280Cys		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.R280C	ENST00000382496.5	37	c.838	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719364	0.68844	0.0	1.16E-4	ENSG00000112902	ENST00000382496	T	0.22539	1.95	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.27262	-1.0079	10	0.51188	T	0.08	.	17.6206	0.88080	0.0:0.0:1.0:0.0	.	280	Q13591	SEM5A_HUMAN	C	280	ENSP00000371936:R280C	ENSP00000371936:R280C	R	-	1	0	SEMA5A	9255161	1.000000	0.71417	0.973000	0.42090	0.262000	0.26303	4.771000	0.62318	2.760000	0.94817	0.655000	0.94253	CGT	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.517	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2		0.00	47	0	G			9202161	-1			no_errors	ENST00000382496	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A
SETBP1	26040	genome.wustl.edu	37	18	42531093	42531093	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:42531093C>T	ENST00000282030.5	+	4	2084	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCTTTGCTCACAGTCGAGA	0.522									Schinzel-Giedion syndrome																																								0													72.0	70.0	71.0					18																	42531093		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1788C>T	18.37:g.42531093C>T			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.L596	ENST00000282030.5	37	c.1788	CCDS11923.2	18																																																																																			SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0.00	48	0	C	NM_001130110		42531093	+1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	silent	10.77	58	7	SNP	1.000	T
SETBP1	26040	genome.wustl.edu	37	18	42531093	42531093	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:42531093C>T	ENST00000282030.5	+	4	2084	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCTTTGCTCACAGTCGAGA	0.522									Schinzel-Giedion syndrome																																								0													72.0	70.0	71.0					18																	42531093		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1788C>T	18.37:g.42531093C>T			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.L596	ENST00000282030.5	37	c.1788	CCDS11923.2	18																																																																																			SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0.00	73	0	C	NM_001130110		42531093	+1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	silent	10.77	58	7	SNP	1.000	T
SFRP4	6424	genome.wustl.edu	37	7	37955833	37955833	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:37955833G>A	ENST00000436072.2	-	1	684	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	103	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCGCGCGCGCGTTGGCACACC	0.632																																																	0													62.0	53.0	56.0					7																	37955833		2203	4300	6503	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.307C>T	7.37:g.37955833G>A	ENSP00000410715:p.Arg103Cys		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R103C	ENST00000436072.2	37	c.307	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691466	0.68271	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.76709	-1.04	4.28	4.28	0.50868	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.89095	3.005	0.53688	D	0.999977	D	0.89917	1.0	D	0.78314	0.991	D	0.89849	0.4008	10	0.87932	D	0	.	10.953	0.47341	0.0:0.0:0.8126:0.1874	.	103	Q6FHJ7	SFRP4_HUMAN	C	103;100	ENSP00000410715:R103C	ENSP00000410715:R103C	R	-	1	0	SFRP4	37922358	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.549000	0.53681	2.205000	0.71048	0.650000	0.86243	CGC	SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000106483		0.632	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0.00	69	0	G	NM_003014		37955833	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	missense	10.17	52	6	SNP	1.000	A
SH2B1	25970	genome.wustl.edu	37	16	28877611	28877611	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:28877611C>T	ENST00000322610.8	+	4	635	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R66C|SH2B1_ENST00000395532.4_Missense_Mutation_p.R66C|SH2B1_ENST00000545570.1_Intron|RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000359285.5_Missense_Mutation_p.R66C|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	66	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for self-association.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCCTTCTCCCGCCGTTTTGC	0.697																																																	0													21.0	23.0	22.0					16																	28877611		2196	4299	6495	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.196C>T	16.37:g.28877611C>T	ENSP00000321221:p.Arg66Cys		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.R66C	ENST00000322610.8	37	c.196	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922170	0.73213	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.50277	0.75;0.76;0.76;0.76	4.71	3.72	0.42706	Phenylalanine zipper (2);	0.077733	0.52532	D	0.000071	T	0.48132	0.1483	L	0.50333	1.59	0.42236	D	0.991913	P;P;D	0.60575	0.894;0.894;0.988	B;B;P	0.47206	0.312;0.312;0.541	T	0.53774	-0.8391	10	0.72032	D	0.01	-27.2947	13.3937	0.60838	0.0:0.8401:0.1599:0.0	.	66;66;66	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	C	66	ENSP00000321221:R66C;ENSP00000352232:R66C;ENSP00000378903:R66C;ENSP00000337163:R66C	ENSP00000321221:R66C	R	+	1	0	SH2B1	28785112	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.244000	0.58728	0.908000	0.36671	0.455000	0.32223	CGC	SH2B1	-	pfam_Phe_ZIP,superfamily_Phe_ZIP	ENSG00000178188		0.697	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	-	0.00	44	0	C	NM_015503		28877611	+1	tier1	-	no_errors	ENST00000322610	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
SIK2	23235	genome.wustl.edu	37	11	111594547	111594547	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:111594547G>A	ENST00000304987.3	+	15	2648	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	825			P -> L (in dbSNP:rs55889697). {ECO:0000269|PubMed:17344846}.		insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGccgccaccgccaccacccc	0.667																																																	0													31.0	39.0	36.0					11																	111594547		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2475G>A	11.37:g.111594547G>A			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P825	ENST00000304987.3	37	c.2475	CCDS8347.1	11																																																																																			SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.667	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	-	0.00	35	0	G	NM_015191		111594547	+1	tier1	-	no_errors	ENST00000304987	ensembl	human	known	74_37	silent	17.07	33	7	SNP	0.002	A
SIK2	23235	genome.wustl.edu	37	11	111594547	111594547	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:111594547G>A	ENST00000304987.3	+	15	2648	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	825			P -> L (in dbSNP:rs55889697). {ECO:0000269|PubMed:17344846}.		insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGccgccaccgccaccacccc	0.667																																																	0													31.0	39.0	36.0					11																	111594547		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2475G>A	11.37:g.111594547G>A			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P825	ENST00000304987.3	37	c.2475	CCDS8347.1	11																																																																																			SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.667	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	-	0.00	43	0	G	NM_015191		111594547	+1	tier1	-	no_errors	ENST00000304987	ensembl	human	known	74_37	silent	17.07	33	7	SNP	0.002	A
SLC16A2	6567	genome.wustl.edu	37	X	73751336	73751336	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:73751336A>G	ENST00000587091.1	+	6	1745	c.1568A>G	c.(1567-1569)gAc>gGc	p.D523G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.D597G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	523					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CCTGACCCAGACCCCAATGGG	0.537																																																	0													82.0	75.0	78.0					X																	73751336		2203	4300	6503	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1568A>G	X.37:g.73751336A>G	ENSP00000465734:p.Asp523Gly		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D597G	ENST00000587091.1	37	c.1790	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	A	9.598	1.127990	0.20959	.	.	ENSG00000147100	ENST00000276033	T	0.10099	2.91	5.3	1.23	0.21249	Major facilitator superfamily domain (1);	0.492954	0.22074	N	0.064996	T	0.02767	0.0083	N	0.00926	-1.1	0.24081	N	0.995941	B	0.33777	0.425	B	0.36808	0.233	T	0.28396	-1.0045	10	0.36615	T	0.2	.	0.8461	0.01161	0.3979:0.1304:0.112:0.3597	.	523	P36021	MOT8_HUMAN	G	597	ENSP00000276033:D597G	ENSP00000276033:D597G	D	+	2	0	SLC16A2	73668061	1.000000	0.71417	0.987000	0.45799	0.789000	0.44602	2.109000	0.41863	0.193000	0.20303	0.430000	0.28490	GAC	SLC16A2	-	pfscan_MFS_dom	ENSG00000147100		0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3		0.00	34	0	A			73751336	+1			no_errors	ENST00000276033	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.986	G
SLC18A3	6572	genome.wustl.edu	37	10	50820256	50820256	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50820256G>A	ENST00000374115.3	+	1	1910	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	490					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.P490P(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATGAGCCACCGCAAGGTCTGT	0.667																																																	1	Substitution - coding silent(1)	endometrium(1)											64.0	60.0	61.0					10																	50820256		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1470G>A	10.37:g.50820256G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P490	ENST00000374115.3	37	c.1470	CCDS7231.1	10																																																																																			SLC18A3	-	NULL	ENSG00000187714		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1		0.00	36	0	G	NM_003055		50820256	+1			no_errors	ENST00000374115	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.984	A
SLC25A13	10165	genome.wustl.edu	37	7	95751185	95751185	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95751185T>G	ENST00000265631.5	-	16	1852	c.1716A>C	c.(1714-1716)gaA>gaC	p.E572D	SLC25A13_ENST00000542654.1_Missense_Mutation_p.E464D|SLC25A13_ENST00000416240.2_Missense_Mutation_p.E573D|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	572					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGGTCCTTCTTCACGCAGTA	0.428																																																	0													133.0	125.0	128.0					7																	95751185		2203	4300	6503	SO:0001583	missense	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1716A>C	7.37:g.95751185T>G	ENSP00000265631:p.Glu572Asp		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E573D	ENST00000265631.5	37	c.1719	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082521	0.55861	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80738	-1.41;-1.41;-1.41	5.04	-1.7	0.08159	Mitochondrial carrier domain (2);	0.185306	0.46442	D	0.000291	D	0.82811	0.5118	L	0.41124	1.26	0.58432	D	0.999992	D;D;D	0.67145	0.982;0.996;0.996	D;D;D	0.72075	0.911;0.976;0.976	T	0.81172	-0.1054	10	0.62326	D	0.03	-23.193	14.1437	0.65336	0.0:0.6154:0.0:0.3846	.	464;573;572	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	572;573;464	ENSP00000265631:E572D;ENSP00000400101:E573D;ENSP00000440484:E464D	ENSP00000265631:E572D	E	-	3	2	SLC25A13	95589121	0.950000	0.32346	0.992000	0.48379	0.617000	0.37484	0.097000	0.15168	-0.346000	0.08312	-0.441000	0.05720	GAA	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000004864		0.428	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	-	0.00	41	0	T	NM_014251		95751185	-1	tier1	-	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	G
SLC25A13	10165	genome.wustl.edu	37	7	95751185	95751185	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:95751185T>G	ENST00000265631.5	-	16	1852	c.1716A>C	c.(1714-1716)gaA>gaC	p.E572D	SLC25A13_ENST00000542654.1_Missense_Mutation_p.E464D|SLC25A13_ENST00000416240.2_Missense_Mutation_p.E573D|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	572					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTGGTCCTTCTTCACGCAGTA	0.428																																																	0													133.0	125.0	128.0					7																	95751185		2203	4300	6503	SO:0001583	missense	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1716A>C	7.37:g.95751185T>G	ENSP00000265631:p.Glu572Asp		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E573D	ENST00000265631.5	37	c.1719	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082521	0.55861	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80738	-1.41;-1.41;-1.41	5.04	-1.7	0.08159	Mitochondrial carrier domain (2);	0.185306	0.46442	D	0.000291	D	0.82811	0.5118	L	0.41124	1.26	0.58432	D	0.999992	D;D;D	0.67145	0.982;0.996;0.996	D;D;D	0.72075	0.911;0.976;0.976	T	0.81172	-0.1054	10	0.62326	D	0.03	-23.193	14.1437	0.65336	0.0:0.6154:0.0:0.3846	.	464;573;572	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	572;573;464	ENSP00000265631:E572D;ENSP00000400101:E573D;ENSP00000440484:E464D	ENSP00000265631:E572D	E	-	3	2	SLC25A13	95589121	0.950000	0.32346	0.992000	0.48379	0.617000	0.37484	0.097000	0.15168	-0.346000	0.08312	-0.441000	0.05720	GAA	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000004864		0.428	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	-	0.00	86	0	T	NM_014251		95751185	-1	tier1	-	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	G
SLC35G6	643664	genome.wustl.edu	37	17	7385682	7385682	+	Missense_Mutation	SNP	G	G	A	rs143401129	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7385682G>A	ENST00000412468.2	+	2	494	c.379G>A	c.(379-381)Gct>Act	p.A127T	ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	127	EamA 1.					integral component of membrane (GO:0016021)		p.A127T(1)									GGTGGTGCCCGCTGGCAACGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18120	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	skin(1)											117.0	118.0	117.0					17																	7385682		2203	4297	6500	SO:0001583	missense	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.379G>A	17.37:g.7385682G>A	ENSP00000396523:p.Ala127Thr			Missense_Mutation	SNP	pfam_DMT	p.A127T	ENST00000412468.2	37	c.379	CCDS45603.1	17	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660468	0.14645	.	.	ENSG00000181222	ENST00000412468	T	0.61040	0.14	4.33	1.16	0.20824	.	.	.	.	.	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18209	-1.0344	9	0.15952	T	0.53	2.672	4.1386	0.10183	0.2674:0.3521:0.3805:0.0	.	127	P0C7Q6	S35G6_HUMAN	T	127	ENSP00000396523:A127T	ENSP00000396523:A127T	A	+	1	0	SLC35G6	7326406	0.000000	0.05858	0.060000	0.19600	0.581000	0.36288	-0.024000	0.12435	0.400000	0.25396	0.563000	0.77884	GCT	SLC35G6	-	pfam_DMT	ENSG00000259224		0.617	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding			0.00	111	0	G	NM_001102614		7385682	+1			no_errors	ENST00000412468	ensembl	human	known	74_37	missense	5.80	64	4	SNP	0.004	A
SLC46A2	57864	genome.wustl.edu	37	9	115652626	115652626	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:115652626C>T	ENST00000374228.4	-	1	567	c.336G>A	c.(334-336)tcG>tcA	p.S112S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	112					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGCCCAGCAGCGACATGCAGA	0.647																																																	0													67.0	70.0	69.0					9																	115652626		2203	4299	6502	SO:0001819	synonymous_variant	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.336G>A	9.37:g.115652626C>T			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.S112	ENST00000374228.4	37	c.336	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.647	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1		0.00	27	0	C	NM_033051		115652626	-1			no_errors	ENST00000374228	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.763	T
SLC4A4	8671	genome.wustl.edu	37	4	72215652	72215652	+	Missense_Mutation	SNP	T	T	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:72215652T>C	ENST00000264485.5	+	5	530	c.413T>C	c.(412-414)gTg>gCg	p.V138A	SLC4A4_ENST00000512686.1_Missense_Mutation_p.V94A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.V94A|SLC4A4_ENST00000351898.6_Missense_Mutation_p.V138A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V138A	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	138					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAAGAAAAAGTGGAACAGGGT	0.433																																																	0													121.0	119.0	120.0					4																	72215652		2203	4300	6503	SO:0001583	missense	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.413T>C	4.37:g.72215652T>C	ENSP00000264485:p.Val138Ala		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.V138A	ENST00000264485.5	37	c.413	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046104	0.93740	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.77	5.77	0.91146	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92561	0.7637	H	0.95260	3.645	0.80722	D	1	D;D;D;P;D;D	0.64830	0.97;0.994;0.963;0.913;0.97;0.97	P;D;P;P;P;P	0.68765	0.868;0.96;0.839;0.539;0.868;0.859	D	0.94623	0.7815	10	0.87932	D	0	.	16.0919	0.81098	0.0:0.0:0.0:1.0	.	138;138;94;94;118;138	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	A	138;138;138;94;94	ENSP00000264485:V138A;ENSP00000393557:V138A;ENSP00000307349:V138A;ENSP00000422400:V94A;ENSP00000344272:V94A	ENSP00000264485:V138A	V	+	2	0	SLC4A4	72434516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.013000	0.88655	2.190000	0.69967	0.528000	0.53228	GTG	SLC4A4	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1		0.00	72	0	T	NM_003759		72215652	+1			no_errors	ENST00000425175	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	C
SLCO1B1	10599	genome.wustl.edu	37	12	21355473	21355473	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:21355473A>T	ENST00000256958.2	+	10	1280	c.1184A>T	c.(1183-1185)tAt>tTt	p.Y395F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	395					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTAGGAGGATATATCATTAAA	0.289																																																	0													62.0	61.0	61.0					12																	21355473		2203	4297	6500	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1184A>T	12.37:g.21355473A>T	ENSP00000256958:p.Tyr395Phe		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.Y395F	ENST00000256958.2	37	c.1184	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	A	7.392	0.630930	0.14322	.	.	ENSG00000134538	ENST00000256958	T	0.58358	0.34	3.07	0.381	0.16228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.474372	0.21520	N	0.073231	T	0.31857	0.0810	N	0.21448	0.665	0.19300	N	0.999979	B	0.11235	0.004	B	0.13407	0.009	T	0.13791	-1.0496	10	0.27785	T	0.31	.	6.7274	0.23365	0.4147:0.0:0.0:0.5853	.	395	Q9Y6L6	SO1B1_HUMAN	F	395	ENSP00000256958:Y395F	ENSP00000256958:Y395F	Y	+	2	0	SLCO1B1	21246740	0.042000	0.20092	0.486000	0.27416	0.250000	0.25880	1.501000	0.35693	-0.042000	0.13535	0.254000	0.18369	TAT	SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.289	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0.00	51	0	A	NM_006446		21355473	+1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.375	T
SLCO4A1	28231	genome.wustl.edu	37	20	61292523	61292523	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr20:61292523C>T	ENST00000370507.1	+	4	1213	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.P373S|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	373					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAGAGACCTGCCTCTGTAAGG	0.597																																					Pancreas(168;741 2006 10379 40139 45334)												0													72.0	64.0	66.0					20																	61292523		2203	4300	6503	SO:0001583	missense	0			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1117C>T	20.37:g.61292523C>T	ENSP00000359538:p.Pro373Ser		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P373S	ENST00000370507.1	37	c.1117	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	c	17.54	3.415469	0.62511	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.46819	0.86;0.86	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.89353	3.025	0.80722	D	1	P	0.52061	0.95	P	0.62885	0.908	T	0.73062	-0.4101	10	0.25751	T	0.34	.	16.6873	0.85312	0.0:1.0:0.0:0.0	.	373	Q96BD0	SO4A1_HUMAN	S	373	ENSP00000217159:P373S;ENSP00000359538:P373S	ENSP00000217159:P373S	P	+	1	0	SLCO4A1	60762968	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.753000	0.74904	1.940000	0.56252	0.450000	0.29827	CCT	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000101187		0.597	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2		0.00	46	0	C	NM_016354		61292523	+1			no_errors	ENST00000217159	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
SLFN11	91607	genome.wustl.edu	37	17	33690706	33690706	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:33690706G>T	ENST00000394566.1	-	4	393	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	SLFN11_ENST00000308377.4_Missense_Mutation_p.Q41K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	41					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTTCTCTTGGTCTCTCTGA	0.473																																																	0													114.0	119.0	117.0					17																	33690706		2203	4300	6503	SO:0001583	missense	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.121C>A	17.37:g.33690706G>T	ENSP00000378067:p.Gln41Lys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.Q41K	ENST00000394566.1	37	c.121	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959510	0.02267	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.21361	4.61;4.61;2.01;2.34;2.01	4.0	-5.31	0.02730	.	1.479730	0.04839	N	0.440091	T	0.08268	0.0206	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.02654	T	1	.	7.7467	0.28873	0.0:0.3909:0.2131:0.396	.	41	Q7Z7L1	SLN11_HUMAN	K	41	ENSP00000312402:Q41K;ENSP00000378067:Q41K;ENSP00000397454:Q41K;ENSP00000393615:Q41K;ENSP00000395140:Q41K	ENSP00000312402:Q41K	Q	-	1	0	SLFN11	30714819	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.746000	0.04829	-0.696000	0.05098	0.655000	0.94253	CAA	SLFN11	-	NULL	ENSG00000172716		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	-	0.00	126	0	G	NM_152270		33690706	-1	tier1	-	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	23.73	90	28	SNP	0.000	T
SLFN11	91607	genome.wustl.edu	37	17	33690706	33690706	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:33690706G>T	ENST00000394566.1	-	4	393	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	SLFN11_ENST00000308377.4_Missense_Mutation_p.Q41K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	41					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTTCTCTTGGTCTCTCTGA	0.473																																																	0													114.0	119.0	117.0					17																	33690706		2203	4300	6503	SO:0001583	missense	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.121C>A	17.37:g.33690706G>T	ENSP00000378067:p.Gln41Lys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.Q41K	ENST00000394566.1	37	c.121	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959510	0.02267	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.21361	4.61;4.61;2.01;2.34;2.01	4.0	-5.31	0.02730	.	1.479730	0.04839	N	0.440091	T	0.08268	0.0206	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.02654	T	1	.	7.7467	0.28873	0.0:0.3909:0.2131:0.396	.	41	Q7Z7L1	SLN11_HUMAN	K	41	ENSP00000312402:Q41K;ENSP00000378067:Q41K;ENSP00000397454:Q41K;ENSP00000393615:Q41K;ENSP00000395140:Q41K	ENSP00000312402:Q41K	Q	-	1	0	SLFN11	30714819	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.746000	0.04829	-0.696000	0.05098	0.655000	0.94253	CAA	SLFN11	-	NULL	ENSG00000172716		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	-	0.00	154	0	G	NM_152270		33690706	-1	tier1	-	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	23.73	90	28	SNP	0.000	T
SMC1B	27127	genome.wustl.edu	37	22	45802390	45802391	+	In_Frame_Ins	INS	-	-	TTG			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr22:45802390_45802391insTTG	ENST00000357450.4	-	4	564_565	c.565_566insCAA	c.(565-567)aaa>aCAAaa	p.188_189insT	SMC1B_ENST00000404354.3_In_Frame_Ins_p.188_189insT	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	188					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TATATTTTTTTTCTTATTAAAG	0.347																																																	0																																										SO:0001652	inframe_insertion	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.565_566insCAA	22.37:g.45802390_45802391insTTG	ENSP00000350036:p.Lys188_Lys189insThr		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	In_Frame_Ins	INS	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.189in_frame_insT	ENST00000357450.4	37	c.566_565	CCDS43027.1	22																																																																																			SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.347	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2		0.00	53	0	0	NM_148674		45802391	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	in_frame_ins	8.75	73	7	INS	1.000:1.000	TTG
SMG1	23049	genome.wustl.edu	37	16	18872019	18872019	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:18872019G>A	ENST00000446231.2	-	26	4187	c.3775C>T	c.(3775-3777)Cta>Tta	p.L1259L	SMG1_ENST00000389467.3_Silent_p.L1259L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1259	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCAGCAAGTAGATTGATATTT	0.299																																																	0													19.0	18.0	19.0					16																	18872019		1612	3622	5234	SO:0001819	synonymous_variant	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3775C>T	16.37:g.18872019G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1259	ENST00000446231.2	37	c.3775	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.299	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0.00	413	0	G	NM_015092		18872019	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	silent	9.02	464	46	SNP	0.999	A
SMPDL3B	27293	genome.wustl.edu	37	1	28282257	28282257	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:28282257C>T	ENST00000373894.3	+	6	944	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Silent_p.F251F|SMPDL3B_ENST00000549094.1_Silent_p.F203F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	251					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGGCATGGTTCCGGGAGGGCT	0.562																																																	0													90.0	86.0	88.0					1																	28282257		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.753C>T	1.37:g.28282257C>T			B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F251	ENST00000373894.3	37	c.753	CCDS30655.1	1																																																																																			SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.562	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0.00	50	0	C	NM_014474		28282257	+1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	silent	25.49	38	13	SNP	1.000	T
SMPDL3B	27293	genome.wustl.edu	37	1	28282257	28282257	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:28282257C>T	ENST00000373894.3	+	6	944	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Silent_p.F251F|SMPDL3B_ENST00000549094.1_Silent_p.F203F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	251					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGGCATGGTTCCGGGAGGGCT	0.562																																																	0													90.0	86.0	88.0					1																	28282257		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.753C>T	1.37:g.28282257C>T			B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F251	ENST00000373894.3	37	c.753	CCDS30655.1	1																																																																																			SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.562	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0.00	78	0	C	NM_014474		28282257	+1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	silent	25.49	38	13	SNP	1.000	T
SNURF	8926	genome.wustl.edu	37	15	25232074	25232074	+	Intron	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:25232074T>G	ENST00000551312.2	+	6	1184				SNORD64_ENST00000386683.1_RNA|SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GAGGGTTGGCTTAATGATGAG	0.463																																																	0													104.0	96.0	99.0					15																	25232074		876	1991	2867	SO:0001627	intron_variant	0				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+4490T>G	15.37:g.25232074T>G			A6NCW2	RNA	SNP	-	NULL	ENST00000551312.2	37	NULL	CCDS10016.1	15																																																																																			SNORD108	-	-	ENSG00000239014		0.463	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	SNORD108	HGNC	protein_coding	OTTHUMT00000413842.1		0.00	40	0	T	NM_005678		25232074	+1			no_errors	ENST00000459332	ensembl	human	known	74_37	rna	11.11	24	3	SNP	0.016	G
SNX13	23161	genome.wustl.edu	37	7	17873763	17873763	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:17873763G>T	ENST00000409389.1	-	15	1681	c.1509C>A	c.(1507-1509)ttC>ttA	p.F503L	SNX13_ENST00000428135.3_Missense_Mutation_p.F503L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	503					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATTCTGTCTGAAGGAAGGAT	0.383																																																	0													66.0	62.0	63.0					7																	17873763		1887	4115	6002	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1509C>A	7.37:g.17873763G>T	ENSP00000386705:p.Phe503Leu		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.F503L	ENST00000409389.1	37	c.1509		7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339595	0.81911	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.63744	-0.06;-0.06	5.58	2.74	0.32292	.	0.043393	0.85682	D	0.000000	T	0.77864	0.4194	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.78961	-0.1997	10	0.72032	D	0.01	-8.589	10.4954	0.44775	0.2159:0.0:0.7841:0.0	.	300;503;503	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	L	503;503;551	ENSP00000386705:F503L;ENSP00000398789:F503L	ENSP00000242044:F551L	F	-	3	2	SNX13	17840288	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.815000	0.62634	0.700000	0.31782	0.637000	0.83480	TTC	SNX13	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam	ENSG00000071189		0.383	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1		0.00	22	0	G	NM_015132		17873763	-1			no_errors	ENST00000428135	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
NPR2	4882	genome.wustl.edu	37	9	35809846	35809846	+	IGR	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:35809846A>C	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_3'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000396638.2_3'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AAGCCTCTTCAAGTACAGTGA	0.448																																																	0																																										SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809846A>C			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	RNA	SNP	-	NULL	ENST00000342694.2	37	NULL	CCDS6590.1	9																																																																																			SPAG8	-	-	ENSG00000137098		0.448	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	-	0.00	26	0	A			35809846	-1	tier1	-	no_errors	ENST00000489063	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.022	C
NPR2	4882	genome.wustl.edu	37	9	35809849	35809849	+	IGR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:35809849T>G	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_3'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000396638.2_3'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTCTTCAAGTACAGTGAGAA	0.453																																																	0																																										SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809849T>G			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	RNA	SNP	-	NULL	ENST00000342694.2	37	NULL	CCDS6590.1	9																																																																																			SPAG8	-	-	ENSG00000137098		0.453	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	-	0.00	26	0	T			35809849	-1	tier1	-	no_errors	ENST00000489063	ensembl	human	known	74_37	rna	15.00	17	3	SNP	0.010	G
SPATA31A6	389730	genome.wustl.edu	37	9	43625043	43625043	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:43625043T>A	ENST00000332857.6	-	4	3672	c.3644A>T	c.(3643-3645)aAg>aTg	p.K1215M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1215					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGACATTTTCTTGTCCAGCAT	0.488																																																	0													30.0	29.0	30.0					9																	43625043		612	1531	2143	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3644A>T	9.37:g.43625043T>A	ENSP00000329825:p.Lys1215Met			Missense_Mutation	SNP	NULL	p.K1215M	ENST00000332857.6	37	c.3644	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687478	0.29962	.	.	ENSG00000185775	ENST00000332857	T	0.04119	3.7	2.44	2.44	0.29823	.	0.774566	0.10959	N	0.615196	T	0.10337	0.0253	L	0.43152	1.355	0.09310	N	1	P	0.34724	0.465	P	0.50440	0.641	T	0.34304	-0.9834	10	0.62326	D	0.03	-0.7087	6.9206	0.24385	0.0:0.0:0.0:1.0	.	1215	Q5VVP1	F75A6_HUMAN	M	1215	ENSP00000329825:K1215M	ENSP00000329825:K1215M	K	-	2	0	FAM75A6	43565039	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.620000	0.24403	1.391000	0.46566	0.315000	0.21342	AAG	SPATA31A6	-	NULL	ENSG00000185775		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0.00	124	0	T	NM_001145196		43625043	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	21.57	120	33	SNP	0.003	A
SPATA31A6	389730	genome.wustl.edu	37	9	43625043	43625043	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:43625043T>A	ENST00000332857.6	-	4	3672	c.3644A>T	c.(3643-3645)aAg>aTg	p.K1215M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1215					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGACATTTTCTTGTCCAGCAT	0.488																																																	0													30.0	29.0	30.0					9																	43625043		612	1531	2143	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3644A>T	9.37:g.43625043T>A	ENSP00000329825:p.Lys1215Met			Missense_Mutation	SNP	NULL	p.K1215M	ENST00000332857.6	37	c.3644	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687478	0.29962	.	.	ENSG00000185775	ENST00000332857	T	0.04119	3.7	2.44	2.44	0.29823	.	0.774566	0.10959	N	0.615196	T	0.10337	0.0253	L	0.43152	1.355	0.09310	N	1	P	0.34724	0.465	P	0.50440	0.641	T	0.34304	-0.9834	10	0.62326	D	0.03	-0.7087	6.9206	0.24385	0.0:0.0:0.0:1.0	.	1215	Q5VVP1	F75A6_HUMAN	M	1215	ENSP00000329825:K1215M	ENSP00000329825:K1215M	K	-	2	0	FAM75A6	43565039	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.620000	0.24403	1.391000	0.46566	0.315000	0.21342	AAG	SPATA31A6	-	NULL	ENSG00000185775		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0.00	174	0	T	NM_001145196		43625043	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	21.57	120	33	SNP	0.003	A
SRRM5	100170229	genome.wustl.edu	37	19	44116950	44116950	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:44116950C>A	ENST00000607544.1	+	3	999	c.677C>A	c.(676-678)cCc>cAc	p.P226H	SRRM5_ENST00000417606.1_Missense_Mutation_p.P226H|ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000526798.1_Missense_Mutation_p.P241H			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	226	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						ACTGGAATTCCCTCCAAGGAG	0.532																																																	0													108.0	112.0	111.0					19																	44116950		692	1591	2283	SO:0001583	missense	0			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.677C>A	19.37:g.44116950C>A	ENSP00000476253:p.Pro226His		B4DNF0	Missense_Mutation	SNP	NULL	p.P241H	ENST00000607544.1	37	c.722	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739060	0.49045	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.85	-1.64	0.08318	.	.	.	.	.	T	0.19685	0.0473	N	0.19112	0.55	0.09310	N	0.999999	B	0.29552	0.248	B	0.28991	0.097	T	0.25047	-1.0143	8	0.66056	D	0.02	.	4.1571	0.10266	0.0:0.3642:0.3333:0.3025	.	226	B3KS81	SRRM5_HUMAN	H	241;226	.	ENSP00000414512:P226H	P	+	2	0	SRRM5	48808790	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.178000	0.09782	0.021000	0.15133	0.655000	0.94253	CCC	SRRM5	-	NULL	ENSG00000226763		0.532	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	-	0.00	38	0	C	NM_001145641		44116950	+1	tier1	-	no_errors	ENST00000526798	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.001	A
SRRM5	100170229	genome.wustl.edu	37	19	44116950	44116950	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:44116950C>A	ENST00000607544.1	+	3	999	c.677C>A	c.(676-678)cCc>cAc	p.P226H	SRRM5_ENST00000417606.1_Missense_Mutation_p.P226H|ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000526798.1_Missense_Mutation_p.P241H			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	226	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						ACTGGAATTCCCTCCAAGGAG	0.532																																																	0													108.0	112.0	111.0					19																	44116950		692	1591	2283	SO:0001583	missense	0			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.677C>A	19.37:g.44116950C>A	ENSP00000476253:p.Pro226His		B4DNF0	Missense_Mutation	SNP	NULL	p.P241H	ENST00000607544.1	37	c.722	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739060	0.49045	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.85	-1.64	0.08318	.	.	.	.	.	T	0.19685	0.0473	N	0.19112	0.55	0.09310	N	0.999999	B	0.29552	0.248	B	0.28991	0.097	T	0.25047	-1.0143	8	0.66056	D	0.02	.	4.1571	0.10266	0.0:0.3642:0.3333:0.3025	.	226	B3KS81	SRRM5_HUMAN	H	241;226	.	ENSP00000414512:P226H	P	+	2	0	SRRM5	48808790	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.178000	0.09782	0.021000	0.15133	0.655000	0.94253	CCC	SRRM5	-	NULL	ENSG00000226763		0.532	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	-	0.00	55	0	C	NM_001145641		44116950	+1	tier1	-	no_errors	ENST00000526798	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.001	A
ST8SIA3	51046	genome.wustl.edu	37	18	55021741	55021741	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:55021741G>A	ENST00000324000.3	+	2	2322	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	96					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATCGGACAGCGTTTTTACATC	0.388																																																	0													100.0	100.0	100.0					18																	55021741		2203	4300	6503	SO:0001819	synonymous_variant	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.288G>A	18.37:g.55021741G>A			A8K0F2|Q6B085|Q9NS41	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A96	ENST00000324000.3	37	c.288	CCDS32834.1	18																																																																																			ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.388	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0.00	78	0	G	NM_015879		55021741	+1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	silent	19.12	55	13	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52550232	52550232	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:52550232C>T	ENST00000321725.6	+	38	4198	c.4122C>T	c.(4120-4122)cgC>cgT	p.R1374R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1374	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGGGCCGCTACGGGCCCA	0.697																																																	0													31.0	29.0	30.0					3																	52550232		2203	4298	6501	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4122C>T	3.37:g.52550232C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1374	ENST00000321725.6	37	c.4122	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF_laminin	ENSG00000010327		0.697	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0.00	77	0	C	NM_015136		52550232	+1			no_errors	ENST00000321725	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T
PILRB	29990	genome.wustl.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	T	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:99943553delT	ENST00000610247.1	+	0	493				STAG3L5P_ENST00000493499.1_RNA|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000610247.1:c.-2004T>-	7.37:g.99943553delT			Q69YF9|Q9HBS0	RNA	DEL	-	NULL	ENST00000610247.1	37	NULL	CCDS43622.1	7																																																																																			STAG3L5P-PVRIG2P-PILRB	-	-	ENSG00000272752		0.413	PILRB-202	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG3L5P-PVRIG2P-PILRB	HGNC	protein_coding			0.00	32	0	T	NM_178238		99943553	+1	tier1		no_errors	ENST00000310771	ensembl	human	known	74_37	rna	8.57	32	3	DEL	0.002	-
STARD3	10948	genome.wustl.edu	37	17	37814204	37814207	+	Intron	DEL	CCTC	CCTC	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	CCTC	CCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:37814204_37814207delCCTC	ENST00000336308.5	+	5	593				STARD3_ENST00000578232.1_Intron|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000544210.2_Intron|STARD3_ENST00000394250.4_Intron	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3						cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTTCCCCTTCCTCCCTCCCTCCC	0.618																																																	0																																										SO:0001627	intron_variant	0				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.376-19CCTC>-	17.37:g.37814212_37814215delCCTC			A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	RNA	DEL	-	NULL	ENST00000336308.5	37	NULL	CCDS11341.1	17																																																																																			STARD3	-	-	ENSG00000131748		0.618	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1		0.00	26	0	CCTC			37814207	+1	tier1		no_errors	ENST00000460894	ensembl	human	known	74_37	rna	12.90	27	4	DEL	0.000:0.000:0.000:0.001	-
STARD8	9754	genome.wustl.edu	37	X	67944242	67944242	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:67944242C>T	ENST00000252336.6	+	14	3422	c.3050C>T	c.(3049-3051)gCg>gTg	p.A1017V	STARD8_ENST00000374597.3_Missense_Mutation_p.A1017V|STARD8_ENST00000374599.3_Missense_Mutation_p.A1097V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	1017	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGCAGGCAGCGGGCCCTGAG	0.632																																																	0													32.0	27.0	28.0					X																	67944242		2201	4298	6499	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.3050C>T	X.37:g.67944242C>T	ENSP00000252336:p.Ala1017Val		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A1097V	ENST00000252336.6	37	c.3290	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234203	0.09969	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07567	3.18;3.18;3.18	5.24	-2.22	0.06952	Lipid-binding START (1);	1.000170	0.08070	N	0.999655	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;P	0.35456	0.184;0.502	B;B	0.33568	0.103;0.166	T	0.35076	-0.9803	10	0.54805	T	0.06	.	2.5029	0.04638	0.0957:0.286:0.3003:0.3179	.	1097;1017	Q92502-2;Q92502	.;STAR8_HUMAN	V	1017;1097;1017	ENSP00000252336:A1017V;ENSP00000363727:A1097V;ENSP00000363725:A1017V	ENSP00000252336:A1017V	A	+	2	0	STARD8	67860967	0.000000	0.05858	0.085000	0.20634	0.002000	0.02628	-0.008000	0.12788	-0.729000	0.04875	-1.916000	0.00518	GCG	STARD8	-	smart_START_lipid-bd_dom	ENSG00000130052		0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	-	0.00	32	0	C	NM_014725		67944242	+1	tier1	-	no_errors	ENST00000374599	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
STARD8	9754	genome.wustl.edu	37	X	67944242	67944242	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chrX:67944242C>T	ENST00000252336.6	+	14	3422	c.3050C>T	c.(3049-3051)gCg>gTg	p.A1017V	STARD8_ENST00000374597.3_Missense_Mutation_p.A1017V|STARD8_ENST00000374599.3_Missense_Mutation_p.A1097V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	1017	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGCAGGCAGCGGGCCCTGAG	0.632																																																	0													32.0	27.0	28.0					X																	67944242		2201	4298	6499	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.3050C>T	X.37:g.67944242C>T	ENSP00000252336:p.Ala1017Val		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A1097V	ENST00000252336.6	37	c.3290	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234203	0.09969	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07567	3.18;3.18;3.18	5.24	-2.22	0.06952	Lipid-binding START (1);	1.000170	0.08070	N	0.999655	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;P	0.35456	0.184;0.502	B;B	0.33568	0.103;0.166	T	0.35076	-0.9803	10	0.54805	T	0.06	.	2.5029	0.04638	0.0957:0.286:0.3003:0.3179	.	1097;1017	Q92502-2;Q92502	.;STAR8_HUMAN	V	1017;1097;1017	ENSP00000252336:A1017V;ENSP00000363727:A1097V;ENSP00000363725:A1017V	ENSP00000252336:A1017V	A	+	2	0	STARD8	67860967	0.000000	0.05858	0.085000	0.20634	0.002000	0.02628	-0.008000	0.12788	-0.729000	0.04875	-1.916000	0.00518	GCG	STARD8	-	smart_START_lipid-bd_dom	ENSG00000130052		0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	-	0.00	35	0	C	NM_014725		67944242	+1	tier1	-	no_errors	ENST00000374599	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
STIL	6491	genome.wustl.edu	37	1	47746641	47746641	+	Missense_Mutation	SNP	G	G	T	rs114151695		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:47746641G>T	ENST00000360380.3	-	13	1852	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	STIL_ENST00000396221.2_Missense_Mutation_p.P497T|STIL_ENST00000243182.6_Missense_Mutation_p.P497T|STIL_ENST00000371877.3_Missense_Mutation_p.P497T|STIL_ENST00000337817.5_Missense_Mutation_p.P497T	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	497					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAAGAGCTGGTTTATCCTGG	0.453																																																	0													113.0	103.0	107.0					1																	47746641		2203	4300	6503	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1489C>A	1.37:g.47746641G>T	ENSP00000353544:p.Pro497Thr		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.P497T	ENST00000360380.3	37	c.1489	CCDS548.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.099180|-2.099180	0.00360|0.00360	.|.	.|.	ENSG00000123473|ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371874;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475|ENST00000436811	T;T;T;T;T;T|.	0.48522|.	2.17;2.17;2.08;2.16;2.17;0.81|.	0.158|0.158	0.158|0.158	0.14942|0.14942	.|.	1.915300|.	0.06127|.	U|.	0.669967|.	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999;0.999|.	D;D;D;D;D|.	0.87578|.	0.988;0.982;0.982;0.998;0.982|.	T|T	0.28586|0.28586	-1.0039|-1.0039	9|4	0.12430|.	T|.	0.62|.	.|.	.|.	.|.	.|.	.|.	497;450;497;497;497|.	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468|.	.;.;.;.;STIL_HUMAN|.	T|N	497;497;30;497;497;497;450|30	ENSP00000353544:P497T;ENSP00000337367:P497T;ENSP00000360944:P497T;ENSP00000379523:P497T;ENSP00000243182:P497T;ENSP00000411664:P450T|.	ENSP00000243182:P497T|.	P|T	-|-	1|2	0|0	STIL|STIL	47519228|47519228	0.157000|0.157000	0.22836|0.22836	0.004000|0.004000	0.12327|0.12327	0.060000|0.060000	0.15804|0.15804	0.251000|0.251000	0.18257|0.18257	0.202000|0.202000	0.20498|0.20498	0.205000|0.205000	0.17691|0.17691	CCA|ACC	STIL	-	NULL	ENSG00000123473		0.453	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2		0.00	67	0	G	NM_003035		47746641	-1			no_errors	ENST00000371877	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.001	T
STK33	65975	genome.wustl.edu	37	11	8414148	8414148	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:8414148A>G	ENST00000447869.1	-	12	2372	c.1454T>C	c.(1453-1455)aTg>aCg	p.M485T	STK33_ENST00000396673.1_Missense_Mutation_p.M419T|STK33_ENST00000534493.1_Missense_Mutation_p.M444T|STK33_ENST00000358872.3_Missense_Mutation_p.M298T|STK33_ENST00000315204.1_Missense_Mutation_p.M485T|STK33_ENST00000396672.1_Missense_Mutation_p.M485T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	485					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGTTTTCTCCATTTCTCCCTT	0.453																																																	0													188.0	177.0	181.0					11																	8414148		2201	4296	6497	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1454T>C	11.37:g.8414148A>G	ENSP00000416750:p.Met485Thr		Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M485T	ENST00000447869.1	37	c.1454	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	A	11.48	1.649967	0.29336	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.70045	-0.38;-0.38;-0.38;-0.45;2.05;2.05;-0.38	6.17	-9.3	0.00649	.	3.840760	0.00447	N	0.000086	T	0.42698	0.1214	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48625	-0.9019	10	0.02654	T	1	.	8.5411	0.33393	0.2547:0.0:0.5073:0.238	.	485	Q9BYT3	STK33_HUMAN	T	485;485;485;298;419;174;444	ENSP00000416750:M485T;ENSP00000320754:M485T;ENSP00000379905:M485T;ENSP00000351743:M298T;ENSP00000379906:M419T;ENSP00000415688:M174T;ENSP00000436418:M444T	ENSP00000320754:M485T	M	-	2	0	STK33	8370724	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.578000	0.05841	-1.771000	0.01293	-1.252000	0.01501	ATG	STK33	-	NULL	ENSG00000130413		0.453	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	-	0.00	108	0	A	NM_030906		8414148	-1	tier1	-	no_errors	ENST00000315204	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.000	G
STK33	65975	genome.wustl.edu	37	11	8414148	8414148	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:8414148A>G	ENST00000447869.1	-	12	2372	c.1454T>C	c.(1453-1455)aTg>aCg	p.M485T	STK33_ENST00000396673.1_Missense_Mutation_p.M419T|STK33_ENST00000534493.1_Missense_Mutation_p.M444T|STK33_ENST00000358872.3_Missense_Mutation_p.M298T|STK33_ENST00000315204.1_Missense_Mutation_p.M485T|STK33_ENST00000396672.1_Missense_Mutation_p.M485T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	485					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGTTTTCTCCATTTCTCCCTT	0.453																																																	0													188.0	177.0	181.0					11																	8414148		2201	4296	6497	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1454T>C	11.37:g.8414148A>G	ENSP00000416750:p.Met485Thr		Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M485T	ENST00000447869.1	37	c.1454	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	A	11.48	1.649967	0.29336	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.70045	-0.38;-0.38;-0.38;-0.45;2.05;2.05;-0.38	6.17	-9.3	0.00649	.	3.840760	0.00447	N	0.000086	T	0.42698	0.1214	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48625	-0.9019	10	0.02654	T	1	.	8.5411	0.33393	0.2547:0.0:0.5073:0.238	.	485	Q9BYT3	STK33_HUMAN	T	485;485;485;298;419;174;444	ENSP00000416750:M485T;ENSP00000320754:M485T;ENSP00000379905:M485T;ENSP00000351743:M298T;ENSP00000379906:M419T;ENSP00000415688:M174T;ENSP00000436418:M444T	ENSP00000320754:M485T	M	-	2	0	STK33	8370724	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.578000	0.05841	-1.771000	0.01293	-1.252000	0.01501	ATG	STK33	-	NULL	ENSG00000130413		0.453	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	-	0.00	136	0	A	NM_030906		8414148	-1	tier1	-	no_errors	ENST00000315204	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.000	G
SULF1	23213	genome.wustl.edu	37	8	70515465	70515465	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:70515465C>T	ENST00000260128.4	+	11	1817	c.1100C>T	c.(1099-1101)aCg>aTg	p.T367M	SULF1_ENST00000402687.4_Missense_Mutation_p.T367M|SULF1_ENST00000458141.2_Missense_Mutation_p.T367M|SULF1_ENST00000419716.3_Missense_Mutation_p.T367M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	367					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGGCCCCCACGATCCTGGAT	0.542																																																	0													215.0	182.0	193.0					8																	70515465		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1100C>T	8.37:g.70515465C>T	ENSP00000260128:p.Thr367Met		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.T367M	ENST00000260128.4	37	c.1100	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.102176	0.94245	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	367	Q8IWU6	SULF1_HUMAN	M	367	ENSP00000403040:T367M;ENSP00000260128:T367M;ENSP00000385704:T367M;ENSP00000390315:T367M	ENSP00000260128:T367M	T	+	2	0	SULF1	70678019	1.000000	0.71417	0.824000	0.32777	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG	SULF1	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0.00	58	0	C	NM_015170		70515465	+1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T
SULF1	23213	genome.wustl.edu	37	8	70515465	70515465	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:70515465C>T	ENST00000260128.4	+	11	1817	c.1100C>T	c.(1099-1101)aCg>aTg	p.T367M	SULF1_ENST00000402687.4_Missense_Mutation_p.T367M|SULF1_ENST00000458141.2_Missense_Mutation_p.T367M|SULF1_ENST00000419716.3_Missense_Mutation_p.T367M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	367					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGGCCCCCACGATCCTGGAT	0.542																																																	0													215.0	182.0	193.0					8																	70515465		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1100C>T	8.37:g.70515465C>T	ENSP00000260128:p.Thr367Met		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.T367M	ENST00000260128.4	37	c.1100	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.102176	0.94245	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	367	Q8IWU6	SULF1_HUMAN	M	367	ENSP00000403040:T367M;ENSP00000260128:T367M;ENSP00000385704:T367M;ENSP00000390315:T367M	ENSP00000260128:T367M	T	+	2	0	SULF1	70678019	1.000000	0.71417	0.824000	0.32777	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG	SULF1	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0.00	61	0	C	NM_015170		70515465	+1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T
SYT16	83851	genome.wustl.edu	37	14	62536530	62536530	+	Nonsense_Mutation	SNP	G	G	T	rs376796970		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:62536530G>T	ENST00000430451.2	+	2	930	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.E245*|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	245					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGCCTGCGAAGGTATCCT	0.483																																																	0													88.0	91.0	90.0					14																	62536530		1983	4160	6143	SO:0001587	stop_gained	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.733G>T	14.37:g.62536530G>T	ENSP00000394700:p.Glu245*		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	NULL	p.E245*	ENST00000430451.2	37	c.733	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.737615	0.97801	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	.	.	.	5.4	2.4	0.29515	.	0.260060	0.36740	N	0.002430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.7596	6.9413	0.24494	0.2265:0.126:0.6475:0.0	.	.	.	.	X	245	.	ENSP00000394700:E245X	E	+	1	0	SYT16	61606283	1.000000	0.71417	0.258000	0.24420	0.425000	0.31504	2.524000	0.45589	0.327000	0.23409	0.655000	0.94253	GAA	SYT16	-	NULL	ENSG00000139973		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	-	0.00	56	0	G	NM_031914		62536530	+1	tier1	-	no_errors	ENST00000446982	ensembl	human	known	74_37	nonsense	23.19	53	16	SNP	0.940	T
SYT16	83851	genome.wustl.edu	37	14	62536530	62536530	+	Nonsense_Mutation	SNP	G	G	T	rs376796970		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:62536530G>T	ENST00000430451.2	+	2	930	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.E245*|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	245					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGCCTGCGAAGGTATCCT	0.483																																																	0													88.0	91.0	90.0					14																	62536530		1983	4160	6143	SO:0001587	stop_gained	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.733G>T	14.37:g.62536530G>T	ENSP00000394700:p.Glu245*		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	NULL	p.E245*	ENST00000430451.2	37	c.733	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.737615	0.97801	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	.	.	.	5.4	2.4	0.29515	.	0.260060	0.36740	N	0.002430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.7596	6.9413	0.24494	0.2265:0.126:0.6475:0.0	.	.	.	.	X	245	.	ENSP00000394700:E245X	E	+	1	0	SYT16	61606283	1.000000	0.71417	0.258000	0.24420	0.425000	0.31504	2.524000	0.45589	0.327000	0.23409	0.655000	0.94253	GAA	SYT16	-	NULL	ENSG00000139973		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	-	0.00	58	0	G	NM_031914		62536530	+1	tier1	-	no_errors	ENST00000446982	ensembl	human	known	74_37	nonsense	23.19	53	16	SNP	0.940	T
SYT9	143425	genome.wustl.edu	37	11	7441759	7441759	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:7441759G>A	ENST00000318881.6	+	6	1597	c.1360G>A	c.(1360-1362)Ggc>Agc	p.G454S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGAGATCATCGGCGTGTGTCA	0.438																																																	0													174.0	151.0	159.0					11																	7441759		2201	4296	6497	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1360G>A	11.37:g.7441759G>A	ENSP00000324419:p.Gly454Ser			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.G454S	ENST00000318881.6	37	c.1360	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.399916	0.96030	.	.	ENSG00000170743	ENST00000318881	D	0.92446	-3.04	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000019	D	0.97164	0.9073	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97927	1.0318	10	0.87932	D	0	.	17.1878	0.86871	0.0:0.0:1.0:0.0	.	454	Q86SS6	SYT9_HUMAN	S	454	ENSP00000324419:G454S	ENSP00000324419:G454S	G	+	1	0	SYT9	7398335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.660000	0.90430	0.655000	0.94253	GGC	SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000170743		0.438	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0.00	73	0	G	NM_175733		7441759	+1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A
SYT9	143425	genome.wustl.edu	37	11	7441759	7441759	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:7441759G>A	ENST00000318881.6	+	6	1597	c.1360G>A	c.(1360-1362)Ggc>Agc	p.G454S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGAGATCATCGGCGTGTGTCA	0.438																																																	0													174.0	151.0	159.0					11																	7441759		2201	4296	6497	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1360G>A	11.37:g.7441759G>A	ENSP00000324419:p.Gly454Ser			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.G454S	ENST00000318881.6	37	c.1360	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.399916	0.96030	.	.	ENSG00000170743	ENST00000318881	D	0.92446	-3.04	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000019	D	0.97164	0.9073	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97927	1.0318	10	0.87932	D	0	.	17.1878	0.86871	0.0:0.0:1.0:0.0	.	454	Q86SS6	SYT9_HUMAN	S	454	ENSP00000324419:G454S	ENSP00000324419:G454S	G	+	1	0	SYT9	7398335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.660000	0.90430	0.655000	0.94253	GGC	SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000170743		0.438	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0.00	85	0	G	NM_175733		7441759	+1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38140081	38140082	+	3'UTR	INS	-	-	A	rs11330073|rs371391694	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:38140081_38140082insA	ENST00000261439.4	+	0	4987_4988				TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGGGACTTTCAAAAAAAAAAG	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.*1126->A	4.37:g.38140091_38140091dupA			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	RNA	INS	-	NULL	ENST00000261439.4	37	NULL	CCDS33972.1	4																																																																																			TBC1D1	-	-	ENSG00000065882		0.460	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0.00	20	0	-	NM_015173		38140082	+1	tier1		no_errors	ENST00000407365	ensembl	human	known	74_37	rna	9.52	19	2	INS	0.000:0.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38140081	38140082	+	3'UTR	INS	-	-	A	rs11330073|rs371391694	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:38140081_38140082insA	ENST00000261439.4	+	0	4987_4988				TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGGGACTTTCAAAAAAAAAAG	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.*1126->A	4.37:g.38140091_38140091dupA			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	RNA	INS	-	NULL	ENST00000261439.4	37	NULL	CCDS33972.1	4																																																																																			TBC1D1	-	-	ENSG00000065882		0.460	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0.00	21	0	-	NM_015173		38140082	+1	tier1		no_errors	ENST00000407365	ensembl	human	known	74_37	rna	9.52	19	2	INS	0.000:0.000	A
TBC1D3P2	440452	genome.wustl.edu	37	17	60348791	60348791	+	IGR	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:60348791T>G	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							GCCCCGGATGTTCATGGGAAT	0.557																																																	0																																										SO:0001628	intergenic_variant	0																															17.37:g.60348791T>G				RNA	SNP	-	NULL	ENST00000602932.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	4.900	0.167227	0.09339	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.537648	0.18692	U	0.133822	T	0.28333	0.0700	.	.	.	.	.	.	P	0.40834	0.73	B	0.41271	0.352	T	0.24657	-1.0154	6	0.33141	T	0.24	.	4.4758	0.11739	0.0:8.0E-4:0.0:0.9992	.	105	F8WD16	.	T	105	.	ENSP00000339793:N105T	N	-	2	0	AC053481.1	57703573	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.865000	0.56033	0.000000	0.14550	0.000000	0.15137	AAC	TBC1D3P2	-	-	ENSG00000188755		0.557	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	TBC1D3P2	HGNC	protein_coding	OTTHUMT00000467667.1		0.00	137	0	T			60348791	-1			no_errors	ENST00000339120	ensembl	human	known	74_37	rna	11.76	105	14	SNP	1.000	G
TCL6	27004	genome.wustl.edu	37	14	96130203	96130203	+	RNA	DEL	T	T	-	rs72111707|rs55881700|rs562798511|rs68018867	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:96130203delT	ENST00000467865.1	+	0	611				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ACCAAACACAttttttttttt	0.423			T	TRA@	T-ALL																																			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0																																												0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96130203delT				RNA	DEL	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.423	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1		0.00	9	0	T	NM_012468		96130203	+1	tier1		no_errors	ENST00000352367	ensembl	human	known	74_37	rna	50.00	3	3	DEL	0.012	-
TDRD10	126668	genome.wustl.edu	37	1	154517281	154517281	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154517281C>T	ENST00000368480.3	+	11	893	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TDRD10_ENST00000368482.4_Silent_p.L270L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	270	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGTTGGGTGCTGGACAGGGT	0.537																																																	0													195.0	174.0	181.0					1																	154517281		2203	4300	6503	SO:0001819	synonymous_variant	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.808C>T	1.37:g.154517281C>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L270	ENST00000368480.3	37	c.808	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor	ENSG00000163239		0.537	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	-	0.00	51	0	C	NM_182499		154517281	+1	tier1	-	no_errors	ENST00000368480	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.524	T
TDRD10	126668	genome.wustl.edu	37	1	154517281	154517281	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154517281C>T	ENST00000368480.3	+	11	893	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TDRD10_ENST00000368482.4_Silent_p.L270L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	270	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGTTGGGTGCTGGACAGGGT	0.537																																																	0													195.0	174.0	181.0					1																	154517281		2203	4300	6503	SO:0001819	synonymous_variant	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.808C>T	1.37:g.154517281C>T			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L270	ENST00000368480.3	37	c.808	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor	ENSG00000163239		0.537	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	-	0.00	57	0	C	NM_182499		154517281	+1	tier1	-	no_errors	ENST00000368480	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.524	T
TECPR1	25851	genome.wustl.edu	37	7	97860397	97860397	+	Missense_Mutation	SNP	G	G	A	rs372050077		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:97860397G>A	ENST00000447648.2	-	15	2457	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.R650W|TECPR1_ENST00000379795.3_Missense_Mutation_p.R721W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	720					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCACCTTCCGGCTCTCGCAG	0.682																																																	0								G	TRP/ARG	0,4250		0,0,2125	18.0	25.0	23.0		2158	4.7	1.0	7		23	1,8413		0,1,4206	no	missense	TECPR1	NM_015395.1	101	0,1,6331	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	720/1166	97860397	1,12663	2125	4207	6332	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2158C>T	7.37:g.97860397G>A	ENSP00000404923:p.Arg720Trp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.R721W	ENST00000447648.2	37	c.2161	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597396	0.66332	0.0	1.19E-4	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.37235	1.23;1.23;1.21	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.72118	2.19	0.48236	D	0.999617	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.59595	-0.7425	10	0.66056	D	0.02	-48.5434	11.0379	0.47814	0.0:0.0:0.7025:0.2975	.	650;720	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	W	720;721;650	ENSP00000404923:R720W;ENSP00000369121:R721W;ENSP00000441121:R650W	ENSP00000369121:R721W	R	-	1	2	TECPR1	97698333	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.438000	0.44837	2.323000	0.78572	0.462000	0.41574	CGG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0.00	143	0	G	NM_015395		97860397	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	A
TECPR1	25851	genome.wustl.edu	37	7	97860397	97860397	+	Missense_Mutation	SNP	G	G	A	rs372050077		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:97860397G>A	ENST00000447648.2	-	15	2457	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.R650W|TECPR1_ENST00000379795.3_Missense_Mutation_p.R721W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	720					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCACCTTCCGGCTCTCGCAG	0.682																																																	0								G	TRP/ARG	0,4250		0,0,2125	18.0	25.0	23.0		2158	4.7	1.0	7		23	1,8413		0,1,4206	no	missense	TECPR1	NM_015395.1	101	0,1,6331	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	720/1166	97860397	1,12663	2125	4207	6332	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2158C>T	7.37:g.97860397G>A	ENSP00000404923:p.Arg720Trp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.R721W	ENST00000447648.2	37	c.2161	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597396	0.66332	0.0	1.19E-4	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.37235	1.23;1.23;1.21	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.72118	2.19	0.48236	D	0.999617	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.59595	-0.7425	10	0.66056	D	0.02	-48.5434	11.0379	0.47814	0.0:0.0:0.7025:0.2975	.	650;720	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	W	720;721;650	ENSP00000404923:R720W;ENSP00000369121:R721W;ENSP00000441121:R650W	ENSP00000369121:R721W	R	-	1	2	TECPR1	97698333	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.438000	0.44837	2.323000	0.78572	0.462000	0.41574	CGG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0.00	42	0	G	NM_015395		97860397	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	A
TESK1	7016	genome.wustl.edu	37	9	35607308	35607309	+	Intron	DEL	TG	TG	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:35607308_35607309delTG	ENST00000336395.5	+	5	787				TESK1_ENST00000498522.1_Intron|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1						cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGATACTATGTGTGTGTGTG	0.545																																																	0																																										SO:0001627	intron_variant	0			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.538-15TG>-	9.37:g.35607318_35607319delTG			Q8IXZ8	RNA	DEL	-	NULL	ENST00000336395.5	37	NULL	CCDS6580.1	9																																																																																			TESK1	-	-	ENSG00000107140		0.545	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1		0.00	40	0	TG	NM_006285		35607309	+1	tier1		no_errors	ENST00000463897	ensembl	human	known	74_37	rna	13.64	19	3	DEL	0.001:0.001	-
THSD7B	80731	genome.wustl.edu	37	2	138420994	138420994	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:138420994G>A	ENST00000409968.1	+	26	4678	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M1503I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M1472I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1502						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGATAATGAAATCAAATG	0.378																																																	0													98.0	92.0	94.0					2																	138420994		1880	4108	5988	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4500G>A	2.37:g.138420994G>A	ENSP00000387145:p.Met1500Ile			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.M1503I	ENST00000409968.1	37	c.4509		2	.	.	.	.	.	.	.	.	.	.	.	27.9	4.871690	0.91587	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23950	2.4;2.27;1.88	6.02	6.02	0.97574	.	0.036417	0.85682	D	0.000000	T	0.28499	0.0705	L	0.55990	1.75	0.80722	D	1	P	0.42203	0.773	B	0.34418	0.182	T	0.07404	-1.0774	10	0.72032	D	0.01	.	20.6085	0.99466	0.0:0.0:1.0:0.0	.	1472	C9JKN6	.	I	1500;1503;1472	ENSP00000387145:M1500I;ENSP00000272643:M1503I;ENSP00000413841:M1472I	ENSP00000272643:M1503I	M	+	3	0	THSD7B	138137464	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.352000	0.97076	2.866000	0.98385	0.650000	0.86243	ATG	THSD7B	-	NULL	ENSG00000144229		0.378	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0.00	74	0	G	XM_046570.9		138420994	+1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	6.86	95	7	SNP	1.000	A
THSD7B	80731	genome.wustl.edu	37	2	138420994	138420994	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:138420994G>A	ENST00000409968.1	+	26	4678	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M1503I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M1472I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1502						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGATAATGAAATCAAATG	0.378																																																	0													98.0	92.0	94.0					2																	138420994		1880	4108	5988	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4500G>A	2.37:g.138420994G>A	ENSP00000387145:p.Met1500Ile			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.M1503I	ENST00000409968.1	37	c.4509		2	.	.	.	.	.	.	.	.	.	.	.	27.9	4.871690	0.91587	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23950	2.4;2.27;1.88	6.02	6.02	0.97574	.	0.036417	0.85682	D	0.000000	T	0.28499	0.0705	L	0.55990	1.75	0.80722	D	1	P	0.42203	0.773	B	0.34418	0.182	T	0.07404	-1.0774	10	0.72032	D	0.01	.	20.6085	0.99466	0.0:0.0:1.0:0.0	.	1472	C9JKN6	.	I	1500;1503;1472	ENSP00000387145:M1500I;ENSP00000272643:M1503I;ENSP00000413841:M1472I	ENSP00000272643:M1503I	M	+	3	0	THSD7B	138137464	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.352000	0.97076	2.866000	0.98385	0.650000	0.86243	ATG	THSD7B	-	NULL	ENSG00000144229		0.378	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0.00	78	0	G	XM_046570.9		138420994	+1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	6.86	95	7	SNP	1.000	A
TJP2	9414	genome.wustl.edu	37	9	71836013	71836013	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:71836013C>T	ENST00000377245.4	+	5	761	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	TJP2_ENST00000453658.2_Missense_Mutation_p.R162W|TJP2_ENST00000265384.7_Missense_Mutation_p.R185W|TJP2_ENST00000535702.1_Missense_Mutation_p.R189W|TJP2_ENST00000348208.4_Missense_Mutation_p.R185W|TJP2_ENST00000539225.1_Missense_Mutation_p.R216W	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	185					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGAGCGGGCCCGGAGCCGGGA	0.751																																																	0													6.0	8.0	7.0					9																	71836013		2091	4070	6161	SO:0001583	missense	0			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.553C>T	9.37:g.71836013C>T	ENSP00000366453:p.Arg185Trp		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.R216W	ENST00000377245.4	37	c.646	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844185	0.16963	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.71	4.82	0.62117	.	0.397289	0.27951	N	0.017199	T	0.42268	0.1195	M	0.64997	1.995	0.09310	N	1	B;B;B;B;B	0.17465	0.002;0.009;0.015;0.004;0.022	B;B;B;B;B	0.13407	0.001;0.003;0.001;0.003;0.009	T	0.30966	-0.9960	9	.	.	.	.	8.4142	0.32662	0.2641:0.665:0.0:0.0709	.	216;189;185;185;185	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	W	162;185;185;185;189;216	ENSP00000392178:R162W;ENSP00000366453:R185W;ENSP00000345893:R185W;ENSP00000265384:R185W;ENSP00000442090:R189W;ENSP00000438262:R216W	.	R	+	1	2	TJP2	71025833	0.033000	0.19621	0.028000	0.17463	0.292000	0.27327	0.958000	0.29227	1.421000	0.47157	0.591000	0.81541	CGG	TJP2	-	NULL	ENSG00000119139		0.751	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2		0.00	24	0	C	NM_201629		71836013	+1			no_errors	ENST00000539225	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.001	T
TLL1	7092	genome.wustl.edu	37	4	166996042	166996042	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:166996042G>T	ENST00000061240.2	+	17	2848	c.2201G>T	c.(2200-2202)tGc>tTc	p.C734F	TLL1_ENST00000507499.1_Missense_Mutation_p.C757F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	734	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAGATGAATGCTCTAAGGAT	0.393																																																	0													186.0	154.0	165.0					4																	166996042		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2201G>T	4.37:g.166996042G>T	ENSP00000061240:p.Cys734Phe		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.C734F	ENST00000061240.2	37	c.2201	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514798	0.64634	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.99966	-10.09;-10.09	5.59	5.59	0.84812	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99984	0.9995	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	D	0.99663	1.0994	10	0.66056	D	0.02	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	757;734	E9PD25;O43897	.;TLL1_HUMAN	F	734;757	ENSP00000061240:C734F;ENSP00000426082:C757F	ENSP00000061240:C734F	C	+	2	0	TLL1	167215492	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.714000	0.98744	2.782000	0.95742	0.557000	0.71058	TGC	TLL1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	78	0	G			166996042	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	5.04	113	6	SNP	1.000	T
TLL1	7092	genome.wustl.edu	37	4	166996042	166996042	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:166996042G>T	ENST00000061240.2	+	17	2848	c.2201G>T	c.(2200-2202)tGc>tTc	p.C734F	TLL1_ENST00000507499.1_Missense_Mutation_p.C757F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	734	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAGATGAATGCTCTAAGGAT	0.393																																																	0													186.0	154.0	165.0					4																	166996042		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2201G>T	4.37:g.166996042G>T	ENSP00000061240:p.Cys734Phe		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.C734F	ENST00000061240.2	37	c.2201	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514798	0.64634	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.99966	-10.09;-10.09	5.59	5.59	0.84812	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99984	0.9995	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	D	0.99663	1.0994	10	0.66056	D	0.02	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	757;734	E9PD25;O43897	.;TLL1_HUMAN	F	734;757	ENSP00000061240:C734F;ENSP00000426082:C757F	ENSP00000061240:C734F	C	+	2	0	TLL1	167215492	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.714000	0.98744	2.782000	0.95742	0.557000	0.71058	TGC	TLL1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	86	0	G			166996042	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	5.04	113	6	SNP	1.000	T
TMEM177	80775	genome.wustl.edu	37	2	120443309	120443309	+	3'UTR	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:120443309G>A	ENST00000409951.1	+	0	442				TMEM177_ENST00000496203.1_3'UTR			Q53S58	TM177_HUMAN	transmembrane protein 177							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					acaaggatttgaagctggcag	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000409951.1:c.*19G>A	2.37:g.120443309G>A			Q9BT20	RNA	SNP	-	NULL	ENST00000409951.1	37	NULL		2																																																																																			TMEM177	-	-	ENSG00000144120		0.353	TMEM177-003	PUTATIVE	basic|exp_conf	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330675.1	-	0.00	109	0	G	NM_030577		120443309	+1	tier1	-	no_errors	ENST00000496203	ensembl	human	known	74_37	rna	7.06	79	6	SNP	0.008	A
TMEM177	80775	genome.wustl.edu	37	2	120443309	120443309	+	3'UTR	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:120443309G>A	ENST00000409951.1	+	0	442				TMEM177_ENST00000496203.1_3'UTR			Q53S58	TM177_HUMAN	transmembrane protein 177							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					acaaggatttgaagctggcag	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000409951.1:c.*19G>A	2.37:g.120443309G>A			Q9BT20	RNA	SNP	-	NULL	ENST00000409951.1	37	NULL		2																																																																																			TMEM177	-	-	ENSG00000144120		0.353	TMEM177-003	PUTATIVE	basic|exp_conf	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330675.1	-	0.00	79	0	G	NM_030577		120443309	+1	tier1	-	no_errors	ENST00000496203	ensembl	human	known	74_37	rna	7.06	79	6	SNP	0.008	A
TMEM97	27346	genome.wustl.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs		B4DS02|Q07823	Frame_Shift_Ins	INS	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.K177fs	ENST00000226230.6	37	c.518_519	CCDS11226.2	17																																																																																			TMEM97	-	NULL	ENSG00000109084		0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2		0.00	23	0	-	NM_014573		26653807	+1	tier1		no_errors	ENST00000226230	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	A
TNK1	8711	genome.wustl.edu	37	17	7291970	7291970	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7291970G>A	ENST00000576812.1	+	11	2107	c.1738G>A	c.(1738-1740)Gcc>Acc	p.A580T	TNK1_ENST00000311668.2_Missense_Mutation_p.A575T|TNK1_ENST00000570896.1_Missense_Mutation_p.A575T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TAAAGCCGCTGCCCTCTCTGG	0.587																																																	0													43.0	47.0	46.0					17																	7291970		1901	4136	6037	SO:0001583	missense	0			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1738G>A	17.37:g.7291970G>A	ENSP00000459799:p.Ala580Thr			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A580T	ENST00000576812.1	37	c.1738	CCDS58510.1	17	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794191	0.02862	.	.	ENSG00000174292	ENST00000311668	T	0.77098	-1.07	4.84	-2.22	0.06952	.	1.322780	0.05181	N	0.501411	T	0.57607	0.2065	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.50524	-0.8818	10	0.72032	D	0.01	.	5.2354	0.15443	0.4096:0.0:0.4566:0.1338	.	575;580	Q13470-2;Q13470	.;TNK1_HUMAN	T	575	ENSP00000312309:A575T	ENSP00000312309:A575T	A	+	1	0	TNK1	7232694	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.150000	0.16263	-0.191000	0.10448	0.655000	0.94253	GCC	TNK1	-	NULL	ENSG00000174292		0.587	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	-	0.00	65	0	G	NM_003985		7291970	+1	tier1	-	no_errors	ENST00000576812	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7578202	7578202	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr17:7578202A>T	ENST00000269305.4	-	6	836	c.647T>A	c.(646-648)gTg>gAg	p.V216E	TP53_ENST00000413465.2_Missense_Mutation_p.V216E|TP53_ENST00000455263.2_Missense_Mutation_p.V216E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216E|TP53_ENST00000420246.2_Missense_Mutation_p.V216E|TP53_ENST00000445888.2_Missense_Mutation_p.V216E	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.?(10)|p.V216del(8)|p.0?(8)|p.V216E(7)|p.V216G(6)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V84G(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*6(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V84E(1)|p.V123G(1)|p.V123E(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>M(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)	GGGCACCACCACACTATGTCG	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	62	Substitution - Missense(20)|Deletion - In frame(11)|Deletion - Frameshift(10)|Unknown(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|endometrium(5)|oesophagus(4)|liver(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|central_nervous_system(2)|breast(2)|urinary_tract(2)|soft_tissue(1)|skin(1)|pancreas(1)											123.0	111.0	115.0					17																	7578202		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.647T>A	17.37:g.7578202A>T	ENSP00000269305:p.Val216Glu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V216E	ENST00000269305.4	37	c.647	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853378	0.91355	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.96334	0.9246	10	0.87932	D	0	-12.2832	13.4753	0.61306	1.0:0.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216E;ENSP00000352610:V216E;ENSP00000269305:V216E;ENSP00000398846:V216E;ENSP00000391127:V216E;ENSP00000391478:V216E;ENSP00000425104:V84E;ENSP00000423862:V123E	ENSP00000269305:V216E	V	-	2	0	TP53	7518927	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	87	0	A	NM_000546		7578202	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.999	T
TPTE	7179	genome.wustl.edu	37	21	10943021	10943021	+	Splice_Site	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:10943021C>A	ENST00000361285.4	-	12	896		c.e12-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTGTCCATCTAAGAATAAA	0.318																																																	0													56.0	52.0	54.0					21																	10943021		2203	4298	6501	SO:0001630	splice_region_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.567-1G>T	21.37:g.10943021C>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	-	e9-1	ENST00000361285.4	37	c.567-1	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.722	1.159831	0.21454	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2257	0.43225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9964892	0.997000	0.39634	0.062000	0.19696	0.024000	0.10985	4.705000	0.61838	1.470000	0.48102	0.194000	0.17425	.	TPTE	-	-	ENSG00000166157		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0.00	122	0	C		Intron	10943021	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	splice_site	8.63	127	12	SNP	0.888	A
TPTE	7179	genome.wustl.edu	37	21	10943021	10943021	+	Splice_Site	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:10943021C>A	ENST00000361285.4	-	12	896		c.e12-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTGTCCATCTAAGAATAAA	0.318																																																	0													56.0	52.0	54.0					21																	10943021		2203	4298	6501	SO:0001630	splice_region_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.567-1G>T	21.37:g.10943021C>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	-	e9-1	ENST00000361285.4	37	c.567-1	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.722	1.159831	0.21454	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2257	0.43225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9964892	0.997000	0.39634	0.062000	0.19696	0.024000	0.10985	4.705000	0.61838	1.470000	0.48102	0.194000	0.17425	.	TPTE	-	-	ENSG00000166157		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0.00	143	0	C		Intron	10943021	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	splice_site	8.63	127	12	SNP	0.888	A
TRAPPC11	60684	genome.wustl.edu	37	4	184615821	184615821	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:184615821C>T	ENST00000334690.6	+	23	2775	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S464F|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S858F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	858					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTATATGTTTCTTACCTGATA	0.299																																																	0													61.0	62.0	62.0					4																	184615821		2202	4296	6498	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2573C>T	4.37:g.184615821C>T	ENSP00000335371:p.Ser858Phe		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.S858F	ENST00000334690.6	37	c.2573	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287255	0.59867	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.29	5.29	0.74685	.	0.056264	0.64402	D	0.000001	T	0.62865	0.2463	L	0.44542	1.39	0.80722	D	1	P;D;B;P	0.53885	0.794;0.963;0.371;0.899	P;P;B;P	0.51742	0.58;0.678;0.358;0.667	T	0.62015	-0.6943	9	0.45353	T	0.12	.	19.1299	0.93400	0.0:1.0:0.0:0.0	.	589;464;858;858	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	F	858;858;858;464	.	ENSP00000335371:S858F	S	+	2	0	C4orf41	184852815	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	7.320000	0.79064	2.753000	0.94483	0.467000	0.42956	TCT	TRAPPC11	-	NULL	ENSG00000168538		0.299	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	-	0.00	112	0	C	NM_021942		184615821	+1	tier1	-	no_errors	ENST00000334690	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	T
TRAPPC8	22878	genome.wustl.edu	37	18	29454467	29454467	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:29454467G>A	ENST00000283351.4	-	13	2264	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	TRAPPC8_ENST00000582539.1_Silent_p.L589L|TRAPPC8_ENST00000582513.1_Silent_p.L643L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	643					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATATTCTCTGAGGAAAGCCC	0.328																																																	0													71.0	71.0	71.0					18																	29454467		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1929C>T	18.37:g.29454467G>A			A0JP15|B3KME5|Q9H0L2	Silent	SNP	NULL	p.L643	ENST00000283351.4	37	c.1929	CCDS11901.1	18																																																																																			TRAPPC8	-	NULL	ENSG00000153339		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	-	0.00	34	0	G	NM_014939		29454467	-1	tier1	-	no_errors	ENST00000283351	ensembl	human	known	74_37	silent	12.50	63	9	SNP	0.987	A
TRAPPC8	22878	genome.wustl.edu	37	18	29454467	29454467	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:29454467G>A	ENST00000283351.4	-	13	2264	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	TRAPPC8_ENST00000582539.1_Silent_p.L589L|TRAPPC8_ENST00000582513.1_Silent_p.L643L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	643					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATATTCTCTGAGGAAAGCCC	0.328																																																	0													71.0	71.0	71.0					18																	29454467		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1929C>T	18.37:g.29454467G>A			A0JP15|B3KME5|Q9H0L2	Silent	SNP	NULL	p.L643	ENST00000283351.4	37	c.1929	CCDS11901.1	18																																																																																			TRAPPC8	-	NULL	ENSG00000153339		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	-	0.00	58	0	G	NM_014939		29454467	-1	tier1	-	no_errors	ENST00000283351	ensembl	human	known	74_37	silent	12.50	63	9	SNP	0.987	A
TRIB1	10221	genome.wustl.edu	37	8	126445713	126445713	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:126445713G>A	ENST00000520847.1	+	2	271	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Missense_Mutation_p.R172Q					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTATGTGCGAAGCCGGAAG	0.577																																																	0													110.0	112.0	111.0					8																	126445713		2203	4300	6503	SO:0001583	missense	0			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.17G>A	8.37:g.126445713G>A	ENSP00000429063:p.Arg6Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R172Q	ENST00000520847.1	37	c.515		8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864995	0.91511	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.64618	-0.11;-0.11	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.28688	U	0.014469	T	0.73737	0.3625	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75950	-0.3137	10	0.62326	D	0.03	-6.1311	18.4698	0.90769	0.0:0.0:1.0:0.0	.	172	Q96RU8	TRIB1_HUMAN	Q	172;6	ENSP00000312150:R172Q;ENSP00000429063:R6Q	ENSP00000312150:R172Q	R	+	2	0	TRIB1	126514895	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	4.232000	0.58645	2.449000	0.82847	0.511000	0.50034	CGA	TRIB1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173334		0.577	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	TRIB1	HGNC	protein_coding	OTTHUMT00000381431.1	-	0.00	42	0	G	NM_025195		126445713	+1	tier1	-	no_errors	ENST00000311922	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
TRIB1	10221	genome.wustl.edu	37	8	126445713	126445713	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:126445713G>A	ENST00000520847.1	+	2	271	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Missense_Mutation_p.R172Q					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTATGTGCGAAGCCGGAAG	0.577																																																	0													110.0	112.0	111.0					8																	126445713		2203	4300	6503	SO:0001583	missense	0			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.17G>A	8.37:g.126445713G>A	ENSP00000429063:p.Arg6Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R172Q	ENST00000520847.1	37	c.515		8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864995	0.91511	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.64618	-0.11;-0.11	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.28688	U	0.014469	T	0.73737	0.3625	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75950	-0.3137	10	0.62326	D	0.03	-6.1311	18.4698	0.90769	0.0:0.0:1.0:0.0	.	172	Q96RU8	TRIB1_HUMAN	Q	172;6	ENSP00000312150:R172Q;ENSP00000429063:R6Q	ENSP00000312150:R172Q	R	+	2	0	TRIB1	126514895	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	4.232000	0.58645	2.449000	0.82847	0.511000	0.50034	CGA	TRIB1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173334		0.577	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	TRIB1	HGNC	protein_coding	OTTHUMT00000381431.1	-	0.00	63	0	G	NM_025195		126445713	+1	tier1	-	no_errors	ENST00000311922	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
TRIM39	56658	genome.wustl.edu	37	6	30298569	30298569	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:30298569G>T	ENST00000396547.1	+	3	625	c.465G>T	c.(463-465)caG>caT	p.Q155H	TRIM39_ENST00000396551.3_Missense_Mutation_p.Q155H|TRIM39_ENST00000376656.4_Missense_Mutation_p.Q155H|TRIM39_ENST00000540416.1_Missense_Mutation_p.Q155H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q67H|TRIM39_ENST00000376659.5_Missense_Mutation_p.Q155H|TRIM39_ENST00000396548.1_Missense_Mutation_p.Q155H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	155					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AAAAACTGCAGAAGTGTCTGG	0.498																																																	0													67.0	70.0	69.0					6																	30298569		2203	4300	6503	SO:0001583	missense	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.465G>T	6.37:g.30298569G>T	ENSP00000379796:p.Gln155His		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q155H	ENST00000396547.1	37	c.465	CCDS34377.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.321895|3.321895	0.60634|0.60634	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.54|5.54	2.48|2.48	0.30137|0.30137	.|.	0.291090|.	0.26424|.	N|.	0.024454|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.49455|0.49455	1.56|1.56	0.33045|0.33045	D|D	0.531999|0.531999	D;P;D|.	0.64830|.	0.994;0.454;0.987|.	D;B;D|.	0.75484|.	0.986;0.168;0.951|.	T|T	0.09975|0.09975	-1.0650|-1.0650	10|5	0.62326|.	D|.	0.03|.	.|.	5.9896|5.9896	0.19454|0.19454	0.3428:0.0:0.6572:0.0|0.3428:0.0:0.6572:0.0	.|.	69;155;155|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	H|I	155;155;155;155;155;69;155;155;155;155;67|85	ENSP00000379800:Q155H;ENSP00000365844:Q155H;ENSP00000439400:Q155H;ENSP00000406019:Q155H;ENSP00000379797:Q155H;ENSP00000365847:Q155H;ENSP00000379796:Q155H;ENSP00000424048:Q67H|.	ENSP00000365844:Q155H|.	Q|R	+|+	3|2	2|0	TRIM39-RPP21;TRIM39|TRIM39	30406548|30406548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.698000|2.698000	0.47068|0.47068	0.834000|0.834000	0.34852|0.34852	-0.355000|-0.355000	0.07637|0.07637	CAG|AGA	TRIM39	-	NULL	ENSG00000204599		0.498	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	-	0.00	61	0	G	NM_172016		30298569	+1	tier1	-	no_errors	ENST00000376656	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
TRIM39	56658	genome.wustl.edu	37	6	30298569	30298569	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:30298569G>T	ENST00000396547.1	+	3	625	c.465G>T	c.(463-465)caG>caT	p.Q155H	TRIM39_ENST00000396551.3_Missense_Mutation_p.Q155H|TRIM39_ENST00000376656.4_Missense_Mutation_p.Q155H|TRIM39_ENST00000540416.1_Missense_Mutation_p.Q155H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q67H|TRIM39_ENST00000376659.5_Missense_Mutation_p.Q155H|TRIM39_ENST00000396548.1_Missense_Mutation_p.Q155H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	155					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AAAAACTGCAGAAGTGTCTGG	0.498																																																	0													67.0	70.0	69.0					6																	30298569		2203	4300	6503	SO:0001583	missense	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.465G>T	6.37:g.30298569G>T	ENSP00000379796:p.Gln155His		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q155H	ENST00000396547.1	37	c.465	CCDS34377.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.321895|3.321895	0.60634|0.60634	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.54|5.54	2.48|2.48	0.30137|0.30137	.|.	0.291090|.	0.26424|.	N|.	0.024454|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.49455|0.49455	1.56|1.56	0.33045|0.33045	D|D	0.531999|0.531999	D;P;D|.	0.64830|.	0.994;0.454;0.987|.	D;B;D|.	0.75484|.	0.986;0.168;0.951|.	T|T	0.09975|0.09975	-1.0650|-1.0650	10|5	0.62326|.	D|.	0.03|.	.|.	5.9896|5.9896	0.19454|0.19454	0.3428:0.0:0.6572:0.0|0.3428:0.0:0.6572:0.0	.|.	69;155;155|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	H|I	155;155;155;155;155;69;155;155;155;155;67|85	ENSP00000379800:Q155H;ENSP00000365844:Q155H;ENSP00000439400:Q155H;ENSP00000406019:Q155H;ENSP00000379797:Q155H;ENSP00000365847:Q155H;ENSP00000379796:Q155H;ENSP00000424048:Q67H|.	ENSP00000365844:Q155H|.	Q|R	+|+	3|2	2|0	TRIM39-RPP21;TRIM39|TRIM39	30406548|30406548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.698000|2.698000	0.47068|0.47068	0.834000|0.834000	0.34852|0.34852	-0.355000|-0.355000	0.07637|0.07637	CAG|AGA	TRIM39	-	NULL	ENSG00000204599		0.498	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	-	0.00	63	0	G	NM_172016		30298569	+1	tier1	-	no_errors	ENST00000376656	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
TRIM60	166655	genome.wustl.edu	37	4	165962598	165962598	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:165962598C>T	ENST00000512596.1	+	3	1590	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	TRIM60_ENST00000341062.5_Silent_p.S458S|TRIM60_ENST00000508504.1_Silent_p.S458S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAACAGATTCCGAACCTCTTA	0.333																																																	0													45.0	49.0	48.0					4																	165962598		2202	4298	6500	SO:0001819	synonymous_variant	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1374C>T	4.37:g.165962598C>T			Q8NA35	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S458	ENST00000512596.1	37	c.1374	CCDS3808.1	4																																																																																			TRIM60	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000176979		0.333	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0.00	48	0	C	NM_152620		165962598	+1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	silent	15.56	76	14	SNP	0.000	T
TRIM60	166655	genome.wustl.edu	37	4	165962598	165962598	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr4:165962598C>T	ENST00000512596.1	+	3	1590	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	TRIM60_ENST00000341062.5_Silent_p.S458S|TRIM60_ENST00000508504.1_Silent_p.S458S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAACAGATTCCGAACCTCTTA	0.333																																																	0													45.0	49.0	48.0					4																	165962598		2202	4298	6500	SO:0001819	synonymous_variant	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1374C>T	4.37:g.165962598C>T			Q8NA35	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S458	ENST00000512596.1	37	c.1374	CCDS3808.1	4																																																																																			TRIM60	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000176979		0.333	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0.00	56	0	C	NM_152620		165962598	+1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	silent	15.56	76	14	SNP	0.000	T
TRPC6	7225	genome.wustl.edu	37	11	101374960	101374960	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:101374960C>T	ENST00000344327.3	-	2	1164	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATCATGAGGCCGTTCAATCCT	0.478																																					Colon(166;1315 1927 11094 12848 34731)												0													122.0	108.0	113.0					11																	101374960		2203	4299	6502	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.740G>A	11.37:g.101374960C>T	ENSP00000340913:p.Arg247Gln		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	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_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R247Q	ENST00000344327.3	37	c.740	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900287	0.72754	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.84	5.84	0.93424	Ankyrin repeat-containing domain (3);	0.159187	0.56097	D	0.000039	T	0.71409	0.3336	L	0.46741	1.465	0.58432	D	0.999996	P;P;B	0.42357	0.468;0.777;0.338	B;B;B	0.43701	0.104;0.428;0.048	T	0.71573	-0.4552	10	0.49607	T	0.09	-14.4187	20.1438	0.98071	0.0:1.0:0.0:0.0	.	247;247;247	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Q	247	ENSP00000340913:R247Q;ENSP00000435574:R247Q;ENSP00000343672:R247Q;ENSP00000353687:R247Q	ENSP00000340913:R247Q	R	-	2	0	TRPC6	100880170	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.037000	0.70956	2.768000	0.95171	0.650000	0.86243	CGG	TRPC6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000137672		0.478	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0.00	53	0	C	NM_004621		101374960	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
TRPC6	7225	genome.wustl.edu	37	11	101374960	101374960	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:101374960C>T	ENST00000344327.3	-	2	1164	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATCATGAGGCCGTTCAATCCT	0.478																																					Colon(166;1315 1927 11094 12848 34731)												0													122.0	108.0	113.0					11																	101374960		2203	4299	6502	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.740G>A	11.37:g.101374960C>T	ENSP00000340913:p.Arg247Gln		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	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_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R247Q	ENST00000344327.3	37	c.740	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900287	0.72754	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.84	5.84	0.93424	Ankyrin repeat-containing domain (3);	0.159187	0.56097	D	0.000039	T	0.71409	0.3336	L	0.46741	1.465	0.58432	D	0.999996	P;P;B	0.42357	0.468;0.777;0.338	B;B;B	0.43701	0.104;0.428;0.048	T	0.71573	-0.4552	10	0.49607	T	0.09	-14.4187	20.1438	0.98071	0.0:1.0:0.0:0.0	.	247;247;247	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Q	247	ENSP00000340913:R247Q;ENSP00000435574:R247Q;ENSP00000343672:R247Q;ENSP00000353687:R247Q	ENSP00000340913:R247Q	R	-	2	0	TRPC6	100880170	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.037000	0.70956	2.768000	0.95171	0.650000	0.86243	CGG	TRPC6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000137672		0.478	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0.00	54	0	C	NM_004621		101374960	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	73461495	73461495	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:73461495A>T	ENST00000377111.2	-	4	718	c.475T>A	c.(475-477)Tct>Act	p.S159T	TRPM3_ENST00000377097.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377101.1_Missense_Mutation_p.S6T|TRPM3_ENST00000396292.4_Missense_Mutation_p.S6T|TRPM3_ENST00000408909.2_Missense_Mutation_p.S6T|TRPM3_ENST00000377106.1_Missense_Mutation_p.S6T|TRPM3_ENST00000357533.2_Missense_Mutation_p.S161T|TRPM3_ENST00000396280.5_Missense_Mutation_p.S6T|TRPM3_ENST00000377110.3_Missense_Mutation_p.S159T|TRPM3_ENST00000361823.5_Missense_Mutation_p.S6T|TRPM3_ENST00000396285.1_Missense_Mutation_p.S6T|TRPM3_ENST00000423814.3_Missense_Mutation_p.S161T|TRPM3_ENST00000396283.1_Missense_Mutation_p.S6T|TRPM3_ENST00000360823.2_Missense_Mutation_p.S6T|TRPM3_ENST00000358082.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377105.1_Missense_Mutation_p.S6T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	159					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTATCAAAAGATACTCGCACA	0.453																																																	0													75.0	70.0	72.0					9																	73461495		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.475T>A	9.37:g.73461495A>T	ENSP00000366315:p.Ser159Thr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S161T	ENST00000377111.2	37	c.481		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.2|20.2|20.2	3.941798|3.941798|3.941798	0.73557|0.73557|0.73557	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.04654|.	.|3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.78941|0.78941|.	0.4363|0.4363|.	M|M|M	0.83692|0.83692|0.83692	2.655|2.655|2.655	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|P;D;P;P;P;D;D;P;D|.	.|0.56035|.	.|0.765;0.969;0.69;0.675;0.651;0.974;0.968;0.834;0.974|.	.|B;P;B;P;B;D;P;P;D|.	.|0.70487|.	.|0.342;0.842;0.328;0.511;0.358;0.969;0.759;0.469;0.969|.	T|T|.	0.80422|0.80422|.	-0.1389|-0.1389|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-3.2715|-3.2715|-3.2715	16.5285|16.5285|16.5285	0.84344|0.84344|0.84344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|159;161;6;159;159;159;161;6;6|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	N|T|X	5|159;159;6;6;6;161;6;6;6;6;161;6;6;6;6|48	.|ENSP00000366315:S159T;ENSP00000366314:S159T;ENSP00000366310:S6T;ENSP00000354066:S6T;ENSP00000366309:S6T;ENSP00000350140:S161T;ENSP00000386127:S6T;ENSP00000379581:S6T;ENSP00000379587:S6T;ENSP00000350791:S6T;ENSP00000389542:S161T;ENSP00000366305:S6T;ENSP00000379579:S6T;ENSP00000355395:S6T|.	.|ENSP00000350140:S161T|.	I|S|Y	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72651315|72651315|72651315	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	9.243000|9.243000|9.243000	0.95416|0.95416|0.95416	2.307000|2.307000|2.307000	0.77673|0.77673|0.77673	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATC|TCT|TAT	TRPM3	-	NULL	ENSG00000083067		0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	52	0	A	NM_206945		73461495	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	13.11	53	8	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	73461495	73461495	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:73461495A>T	ENST00000377111.2	-	4	718	c.475T>A	c.(475-477)Tct>Act	p.S159T	TRPM3_ENST00000377097.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377101.1_Missense_Mutation_p.S6T|TRPM3_ENST00000396292.4_Missense_Mutation_p.S6T|TRPM3_ENST00000408909.2_Missense_Mutation_p.S6T|TRPM3_ENST00000377106.1_Missense_Mutation_p.S6T|TRPM3_ENST00000357533.2_Missense_Mutation_p.S161T|TRPM3_ENST00000396280.5_Missense_Mutation_p.S6T|TRPM3_ENST00000377110.3_Missense_Mutation_p.S159T|TRPM3_ENST00000361823.5_Missense_Mutation_p.S6T|TRPM3_ENST00000396285.1_Missense_Mutation_p.S6T|TRPM3_ENST00000423814.3_Missense_Mutation_p.S161T|TRPM3_ENST00000396283.1_Missense_Mutation_p.S6T|TRPM3_ENST00000360823.2_Missense_Mutation_p.S6T|TRPM3_ENST00000358082.3_Missense_Mutation_p.S6T|TRPM3_ENST00000377105.1_Missense_Mutation_p.S6T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	159					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTATCAAAAGATACTCGCACA	0.453																																																	0													75.0	70.0	72.0					9																	73461495		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.475T>A	9.37:g.73461495A>T	ENSP00000366315:p.Ser159Thr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S161T	ENST00000377111.2	37	c.481		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.2|20.2|20.2	3.941798|3.941798|3.941798	0.73557|0.73557|0.73557	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.04654|.	.|3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.78941|0.78941|.	0.4363|0.4363|.	M|M|M	0.83692|0.83692|0.83692	2.655|2.655|2.655	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|P;D;P;P;P;D;D;P;D|.	.|0.56035|.	.|0.765;0.969;0.69;0.675;0.651;0.974;0.968;0.834;0.974|.	.|B;P;B;P;B;D;P;P;D|.	.|0.70487|.	.|0.342;0.842;0.328;0.511;0.358;0.969;0.759;0.469;0.969|.	T|T|.	0.80422|0.80422|.	-0.1389|-0.1389|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-3.2715|-3.2715|-3.2715	16.5285|16.5285|16.5285	0.84344|0.84344|0.84344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|159;161;6;159;159;159;161;6;6|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	N|T|X	5|159;159;6;6;6;161;6;6;6;6;161;6;6;6;6|48	.|ENSP00000366315:S159T;ENSP00000366314:S159T;ENSP00000366310:S6T;ENSP00000354066:S6T;ENSP00000366309:S6T;ENSP00000350140:S161T;ENSP00000386127:S6T;ENSP00000379581:S6T;ENSP00000379587:S6T;ENSP00000350791:S6T;ENSP00000389542:S161T;ENSP00000366305:S6T;ENSP00000379579:S6T;ENSP00000355395:S6T|.	.|ENSP00000350140:S161T|.	I|S|Y	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72651315|72651315|72651315	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	9.243000|9.243000|9.243000	0.95416|0.95416|0.95416	2.307000|2.307000|2.307000	0.77673|0.77673|0.77673	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATC|TCT|TAT	TRPM3	-	NULL	ENSG00000083067		0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	61	0	A	NM_206945		73461495	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	13.11	53	8	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98550994	98550994	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:98550994G>A	ENST00000359863.4	+	39	5856	c.5647G>A	c.(5647-5649)Gga>Aga	p.G1883R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G1865R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G1864R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1883					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.G1883R(1)|p.G1865R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTACAGCGGACACTTGCT	0.587																																																	2	Substitution - Missense(2)	large_intestine(2)											121.0	95.0	104.0					7																	98550994		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5647G>A	7.37:g.98550994G>A	ENSP00000352925:p.Gly1883Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1883R	ENST00000359863.4	37	c.5647	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.142909	0.94560	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63417	-0.04;-0.04	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83697	0.0180	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1865;1604;1883	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	1883;1865;1863	ENSP00000352925:G1883R;ENSP00000347733:G1865R	ENSP00000347733:G1865R	G	+	1	0	TRRAP	98388930	1.000000	0.71417	0.660000	0.29694	0.771000	0.43674	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GGA	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	33	0	G	NM_003496		98550994	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	18.57	57	13	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98550994	98550994	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:98550994G>A	ENST00000359863.4	+	39	5856	c.5647G>A	c.(5647-5649)Gga>Aga	p.G1883R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G1865R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G1864R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1883					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.G1883R(1)|p.G1865R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTACAGCGGACACTTGCT	0.587																																																	2	Substitution - Missense(2)	large_intestine(2)											121.0	95.0	104.0					7																	98550994		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5647G>A	7.37:g.98550994G>A	ENSP00000352925:p.Gly1883Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1883R	ENST00000359863.4	37	c.5647	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.142909	0.94560	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63417	-0.04;-0.04	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83697	0.0180	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1865;1604;1883	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	1883;1865;1863	ENSP00000352925:G1883R;ENSP00000347733:G1865R	ENSP00000347733:G1865R	G	+	1	0	TRRAP	98388930	1.000000	0.71417	0.660000	0.29694	0.771000	0.43674	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GGA	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0.00	93	0	G	NM_003496		98550994	+1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	18.57	57	13	SNP	1.000	A
TSHZ3	57616	genome.wustl.edu	37	19	31770618	31770618	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:31770618G>A	ENST00000240587.4	-	2	408	c.81C>T	c.(79-81)gaC>gaT	p.D27D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	27					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTAAACCTTCGTCCACCAGGG	0.567																																																	0													52.0	53.0	53.0					19																	31770618		1959	4158	6117	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.81C>T	19.37:g.31770618G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D27	ENST00000240587.4	37	c.81	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.567	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0.00	66	0	G	NM_020856		31770618	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	43.55	35	27	SNP	0.000	A
TSPEAR	54084	genome.wustl.edu	37	21	45929171	45929171	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr21:45929171C>G	ENST00000323084.4	-	10	1730	c.1665G>C	c.(1663-1665)caG>caC	p.Q555H	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.Q487H	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	555					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGAATCATTCTGGACTTGCA	0.542																																																	0													217.0	135.0	163.0					21																	45929171		2203	4300	6503	SO:0001583	missense	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1665G>C	21.37:g.45929171C>G	ENSP00000321987:p.Gln555His			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.Q555H	ENST00000323084.4	37	c.1665	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	4.588	0.109251	0.08780	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.15139	2.45;2.45	3.98	-6.14	0.02111	.	0.270496	0.34725	N	0.003731	T	0.07728	0.0194	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.09079	-1.0691	10	0.41790	T	0.15	-16.384	5.2241	0.15385	0.0854:0.1128:0.2217:0.5801	.	555	Q8WU66	TSEAR_HUMAN	H	555;408;487;556	ENSP00000321987:Q555H;ENSP00000381012:Q487H	ENSP00000321987:Q555H	Q	-	3	2	TSPEAR	44753599	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-2.110000	0.01334	-1.315000	0.02297	0.558000	0.71614	CAG	TSPEAR	-	pfscan_EAR	ENSG00000175894		0.542	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0.00	40	0	C	NM_144991		45929171	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.019	G
TSPYL5	85453	genome.wustl.edu	37	8	98289417	98289417	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:98289417G>A	ENST00000322128.3	-	1	759	c.656C>T	c.(655-657)gCg>gTg	p.A219V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	219					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGCCCTGTCCGCCTGGGCGTT	0.607																																																	0													75.0	75.0	75.0					8																	98289417		2203	4300	6503	SO:0001583	missense	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.656C>T	8.37:g.98289417G>A	ENSP00000322802:p.Ala219Val		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.A219V	ENST00000322128.3	37	c.656	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303631	0.81136	.	.	ENSG00000180543	ENST00000322128	T	0.25579	1.79	4.4	4.4	0.53042	.	0.000000	0.37577	N	0.002033	T	0.49184	0.1542	M	0.79123	2.44	0.44359	D	0.997259	D	0.64830	0.994	D	0.67382	0.951	T	0.51608	-0.8684	10	0.87932	D	0	-14.9609	12.7896	0.57526	0.0:0.0:1.0:0.0	.	219	Q86VY4	TSYL5_HUMAN	V	219	ENSP00000322802:A219V	ENSP00000322802:A219V	A	-	2	0	TSPYL5	98358593	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.916000	0.56416	2.739000	0.93911	0.563000	0.77884	GCG	TSPYL5	-	pfam_NAP_family	ENSG00000180543		0.607	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1		0.00	22	0	G	NM_033512		98289417	-1			no_errors	ENST00000322128	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.974	A
TTK	7272	genome.wustl.edu	37	6	80751906	80751906	+	Missense_Mutation	SNP	G	G	A	rs539988632		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr6:80751906G>A	ENST00000369798.2	+	22	2672	c.2561G>A	c.(2560-2562)aGg>aAg	p.R854K	TTK_ENST00000230510.3_Missense_Mutation_p.R853K|TTK_ENST00000509894.1_Missense_Mutation_p.R853K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	854					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAAAAAAAGGGGAAAAAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		15015	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)											48.0	51.0	50.0					6																	80751906		2203	4286	6489	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2561G>A	6.37:g.80751906G>A	ENSP00000358813:p.Arg854Lys		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R854K	ENST00000369798.2	37	c.2561	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513029	0.00975	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65732	-0.17;-0.17;-0.17	5.6	4.71	0.59529	.	0.346876	0.32134	N	0.006539	T	0.26484	0.0647	L	0.36672	1.1	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.17722	0.019;0.019	T	0.22103	-1.0226	10	0.05721	T	0.95	.	14.7704	0.69671	0.0:0.0:0.8545:0.1455	.	854;853	P33981;A8K8U5	TTK_HUMAN;.	K	853;853;854	ENSP00000422936:R853K;ENSP00000230510:R853K;ENSP00000358813:R854K	ENSP00000230510:R853K	R	+	2	0	TTK	80808625	0.994000	0.37717	0.003000	0.11579	0.004000	0.04260	2.330000	0.43885	1.339000	0.45563	0.561000	0.74099	AGG	TTK	-	NULL	ENSG00000112742		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0.00	48	0	G			80751906	+1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	8.57	63	6	SNP	0.089	A
TTN	7273	genome.wustl.edu	37	2	179605249	179605249	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:179605249T>G	ENST00000591111.1	-	46	11984	c.11760A>C	c.(11758-11760)aaA>aaC	p.K3920N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K3999N|TTN_ENST00000460472.2_Missense_Mutation_p.K3874N|TTN_ENST00000589042.1_Missense_Mutation_p.K4237N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4066N			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCTTTTCTTTTGGTGAAA	0.433																																																	0													140.0	126.0	131.0					2																	179605249		1916	4131	6047	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11760A>C	2.37:g.179605249T>G	ENSP00000465570:p.Lys3920Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4066N	ENST00000591111.1	37	c.12198		2	.	.	.	.	.	.	.	.	.	.	T	7.002	0.555024	0.13436	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69926	-0.43;-0.43;-0.44	5.51	3.09	0.35607	.	.	.	.	.	T	0.52948	0.1766	L	0.32530	0.975	0.26905	N	0.967037	B;B;P	0.41366	0.449;0.449;0.747	B;B;B	0.36418	0.224;0.224;0.224	T	0.47947	-0.9077	9	0.87932	D	0	.	10.1568	0.42827	0.0:0.1373:0.0:0.8627	.	3874;3999;4066	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3874;4066;3999;3874	ENSP00000434586:K3874N;ENSP00000340554:K4066N;ENSP00000352154:K3999N	ENSP00000340554:K4066N	K	-	3	2	TTN	179313494	1.000000	0.71417	0.873000	0.34254	0.200000	0.23975	1.800000	0.38833	0.924000	0.37069	0.533000	0.62120	AAA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	60	0	T	NM_133378		179605249	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	G
TXNDC11	51061	genome.wustl.edu	37	16	11785933	11785933	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:11785933G>A	ENST00000356957.3	-	9	1301	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	TXNDC11_ENST00000283033.5_Silent_p.T371T|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	398					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGCCACTTCGGTGATCTGAA	0.557																																																	0													47.0	45.0	45.0					16																	11785933		2165	4217	6382	SO:0001819	synonymous_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1194C>T	16.37:g.11785933G>A			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.T398	ENST00000356957.3	37	c.1194		16																																																																																			TXNDC11	-	NULL	ENSG00000153066		0.557	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1		0.00	49	0	G	NM_015914		11785933	-1			no_errors	ENST00000356957	ensembl	human	known	74_37	silent	6.82	41	3	SNP	1.000	A
TXNDC2	84203	genome.wustl.edu	37	18	9887595	9887595	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:9887595C>G	ENST00000306084.6	+	2	1318	c.1119C>G	c.(1117-1119)gaC>gaG	p.D373E	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.D306E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	373	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGGTGACATTCCCAAGT	0.557																																																	0													142.0	130.0	134.0					18																	9887595		2203	4300	6503	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1119C>G	18.37:g.9887595C>G	ENSP00000304908:p.Asp373Glu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.D373E	ENST00000306084.6	37	c.1119	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652778	0.29336	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16597	2.33;2.33	3.83	-2.94	0.05581	.	.	.	.	.	T	0.07143	0.0181	N	0.17474	0.49	0.09310	N	1	B	0.31769	0.339	B	0.31686	0.134	T	0.33420	-0.9869	8	.	.	.	-1.8788	0.952	0.01378	0.1444:0.2256:0.267:0.363	.	373	Q86VQ3	TXND2_HUMAN	E	171;306;373;358	ENSP00000350419:D306E;ENSP00000304908:D373E	.	D	+	3	2	TXNDC2	9877595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.863000	0.04259	-0.663000	0.05331	-1.191000	0.01696	GAC	TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0.00	124	0	C			9887595	+1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	missense	11.94	118	16	SNP	0.000	G
TXNDC2	84203	genome.wustl.edu	37	18	9887595	9887595	+	Missense_Mutation	SNP	C	C	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:9887595C>G	ENST00000306084.6	+	2	1318	c.1119C>G	c.(1117-1119)gaC>gaG	p.D373E	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.D306E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	373	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGGTGACATTCCCAAGT	0.557																																																	0													142.0	130.0	134.0					18																	9887595		2203	4300	6503	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1119C>G	18.37:g.9887595C>G	ENSP00000304908:p.Asp373Glu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.D373E	ENST00000306084.6	37	c.1119	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652778	0.29336	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16597	2.33;2.33	3.83	-2.94	0.05581	.	.	.	.	.	T	0.07143	0.0181	N	0.17474	0.49	0.09310	N	1	B	0.31769	0.339	B	0.31686	0.134	T	0.33420	-0.9869	8	.	.	.	-1.8788	0.952	0.01378	0.1444:0.2256:0.267:0.363	.	373	Q86VQ3	TXND2_HUMAN	E	171;306;373;358	ENSP00000350419:D306E;ENSP00000304908:D373E	.	D	+	3	2	TXNDC2	9877595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.863000	0.04259	-0.663000	0.05331	-1.191000	0.01696	GAC	TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0.00	139	0	C			9887595	+1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	missense	11.94	118	16	SNP	0.000	G
UBQLN3	50613	genome.wustl.edu	37	11	5530157	5530157	+	Missense_Mutation	SNP	A	A	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:5530157A>C	ENST00000311659.4	-	2	779	c.632T>G	c.(631-633)cTt>cGt	p.L211R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	211										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGTTGTTAAGAATATGCCC	0.527																																					Ovarian(72;684 1260 12332 41642 52180)												0													104.0	103.0	104.0					11																	5530157		2201	4297	6498	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.632T>G	11.37:g.5530157A>C	ENSP00000347997:p.Leu211Arg		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.L211R	ENST00000311659.4	37	c.632	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936572	0.73442	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.64260	0.49;-0.09	5.68	5.68	0.88126	Heat shock chaperonin-binding (1);	0.000000	0.42682	D	0.000676	D	0.83571	0.5283	M	0.93150	3.385	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	D	0.87783	0.2613	10	0.87932	D	0	-34.36	14.1582	0.65430	1.0:0.0:0.0:0.0	.	211	Q9H347	UBQL3_HUMAN	R	211	ENSP00000347997:L211R;ENSP00000412561:L211R	ENSP00000347997:L211R	L	-	2	0	UBQLN3	5486733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.190000	0.94934	2.288000	0.76882	0.482000	0.46254	CTT	UBQLN3	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000175520		0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0.00	88	0	A	NM_017481		5530157	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	C
UGGT1	56886	genome.wustl.edu	37	2	128870770	128870770	+	Missense_Mutation	SNP	C	C	T	rs374345386		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128870770C>T	ENST00000259253.6	+	6	681	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UGGT1_ENST00000375990.3_Missense_Mutation_p.R188C	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	212					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAATTTTCACCGCCAGCTTAT	0.348																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	82.0	80.0		634	4.7	0.3	2		80	0,8598		0,0,4299	no	missense	UGGT1	NM_020120.3	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	212/1556	128870770	1,13003	2203	4299	6502	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.634C>T	2.37:g.128870770C>T	ENSP00000259253:p.Arg212Cys		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R212C	ENST00000259253.6	37	c.634	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773984	0.31411	2.27E-4	0.0	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08807	3.05;3.05	5.58	4.69	0.59074	.	0.572765	0.20088	N	0.099509	T	0.09774	0.0240	L	0.32530	0.975	0.40541	D	0.981025	P;P	0.41450	0.749;0.75	B;B	0.41946	0.371;0.163	T	0.09378	-1.0677	10	0.66056	D	0.02	.	13.6962	0.62580	0.3371:0.6629:0.0:0.0	.	188;212	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	C	188;212	ENSP00000365158:R188C;ENSP00000259253:R212C	ENSP00000259253:R212C	R	+	1	0	UGGT1	128587240	0.804000	0.28969	0.256000	0.24389	0.223000	0.24884	3.254000	0.51477	1.310000	0.45006	0.585000	0.79938	CGC	UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	45	0	C	NM_020120		128870770	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.761	T
UGGT1	56886	genome.wustl.edu	37	2	128870770	128870770	+	Missense_Mutation	SNP	C	C	T	rs374345386		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:128870770C>T	ENST00000259253.6	+	6	681	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UGGT1_ENST00000375990.3_Missense_Mutation_p.R188C	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	212					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAATTTTCACCGCCAGCTTAT	0.348																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	82.0	80.0		634	4.7	0.3	2		80	0,8598		0,0,4299	no	missense	UGGT1	NM_020120.3	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	212/1556	128870770	1,13003	2203	4299	6502	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.634C>T	2.37:g.128870770C>T	ENSP00000259253:p.Arg212Cys		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R212C	ENST00000259253.6	37	c.634	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773984	0.31411	2.27E-4	0.0	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08807	3.05;3.05	5.58	4.69	0.59074	.	0.572765	0.20088	N	0.099509	T	0.09774	0.0240	L	0.32530	0.975	0.40541	D	0.981025	P;P	0.41450	0.749;0.75	B;B	0.41946	0.371;0.163	T	0.09378	-1.0677	10	0.66056	D	0.02	.	13.6962	0.62580	0.3371:0.6629:0.0:0.0	.	188;212	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	C	188;212	ENSP00000365158:R188C;ENSP00000259253:R212C	ENSP00000259253:R212C	R	+	1	0	UGGT1	128587240	0.804000	0.28969	0.256000	0.24389	0.223000	0.24884	3.254000	0.51477	1.310000	0.45006	0.585000	0.79938	CGC	UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	75	0	C	NM_020120		128870770	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.761	T
UGT1A9	54600	genome.wustl.edu	37	2	234581373	234581373	+	Missense_Mutation	SNP	G	G	A	rs142414435	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:234581373G>A	ENST00000354728.4	+	1	875	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.V265M|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	265					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCCAAACCCGTGATGCCCAA	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18338	0.0		0.0	False		,,,				2504	0.0																0								G	,,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	213.0	199.0	204.0		,,793	1.2	1.0	2	dbSNP_134	204	0,8600		0,0,4300	no	intron,intron,missense	UGT1A10,UGT1A8,UGT1A9	NM_019075.2,NM_019076.4,NM_021027.2	,,21	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	,,265/531	234581373	6,13000	2203	4300	6503	SO:0001583	missense	0			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.793G>A	2.37:g.234581373G>A	ENSP00000346768:p.Val265Met		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V265M	ENST00000354728.4	37	c.793	CCDS2505.1	2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013250	0.35511	0.001362	0.0	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.26	1.17	0.20885	.	.	.	.	.	T	0.59715	0.2214	M	0.71206	2.165	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.49953	0.627;0.627	T	0.51419	-0.8708	9	0.62326	D	0.03	.	5.2104	0.15314	0.2632:0.0:0.5806:0.1563	.	265;265	Q5DSZ5;O60656	.;UD19_HUMAN	M	265	ENSP00000346768:V265M	ENSP00000346768:V265M	V	+	1	0	UGT1A9	234246112	0.000000	0.05858	0.980000	0.43619	0.769000	0.43574	-1.094000	0.03359	0.680000	0.31366	0.446000	0.29264	GTG	UGT1A9	-	pfam_UDP_glucos_trans	ENSG00000241119		0.438	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1	-	0.00	73	0	G	NM_021027		234581373	+1	tier1	rs142414435	no_errors	ENST00000354728	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.008	A
UHRF1BP1L	23074	genome.wustl.edu	37	12	100444952	100444952	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:100444952C>A	ENST00000279907.7	-	16	3684	c.3472G>T	c.(3472-3474)Gtg>Ttg	p.V1158L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.V808L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1158										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCAGCATTCACACTTTCTGCT	0.358																																																	0													120.0	112.0	115.0					12																	100444952		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3472G>T	12.37:g.100444952C>A	ENSP00000279907:p.Val1158Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.V1158L	ENST00000279907.7	37	c.3472	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	3.347	-0.133429	0.06711	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09911	2.93;2.93	5.03	-0.779	0.10973	.	0.984794	0.08286	N	0.969181	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	0.999994	B	0.13594	0.008	B	0.12837	0.008	T	0.42582	-0.9443	10	0.27785	T	0.31	-0.0222	5.284	0.15690	0.2472:0.514:0.0:0.2389	.	1158	A0JNW5	UH1BL_HUMAN	L	1158;808	ENSP00000279907:V1158L;ENSP00000444824:V808L	ENSP00000279907:V1158L	V	-	1	0	UHRF1BP1L	98969083	0.007000	0.16637	0.026000	0.17262	0.019000	0.09904	0.256000	0.18351	0.164000	0.19529	-0.175000	0.13238	GTG	UHRF1BP1L	-	NULL	ENSG00000111647		0.358	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0.00	56	0	C	NM_001006947		100444952	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	11.63	76	10	SNP	0.005	A
UHRF1BP1L	23074	genome.wustl.edu	37	12	100444952	100444952	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:100444952C>A	ENST00000279907.7	-	16	3684	c.3472G>T	c.(3472-3474)Gtg>Ttg	p.V1158L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.V808L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1158										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCAGCATTCACACTTTCTGCT	0.358																																																	0													120.0	112.0	115.0					12																	100444952		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3472G>T	12.37:g.100444952C>A	ENSP00000279907:p.Val1158Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.V1158L	ENST00000279907.7	37	c.3472	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	3.347	-0.133429	0.06711	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09911	2.93;2.93	5.03	-0.779	0.10973	.	0.984794	0.08286	N	0.969181	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	0.999994	B	0.13594	0.008	B	0.12837	0.008	T	0.42582	-0.9443	10	0.27785	T	0.31	-0.0222	5.284	0.15690	0.2472:0.514:0.0:0.2389	.	1158	A0JNW5	UH1BL_HUMAN	L	1158;808	ENSP00000279907:V1158L;ENSP00000444824:V808L	ENSP00000279907:V1158L	V	-	1	0	UHRF1BP1L	98969083	0.007000	0.16637	0.026000	0.17262	0.019000	0.09904	0.256000	0.18351	0.164000	0.19529	-0.175000	0.13238	GTG	UHRF1BP1L	-	NULL	ENSG00000111647		0.358	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0.00	84	0	C	NM_001006947		100444952	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	11.63	76	10	SNP	0.005	A
UNC13C	440279	genome.wustl.edu	37	15	54306773	54306773	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr15:54306773A>G	ENST00000260323.11	+	1	1673	c.1673A>G	c.(1672-1674)cAg>cGg	p.Q558R	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q558R|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q558R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	558					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATTGTGTCAGTCTTACTCA	0.413																																																	0													49.0	48.0	48.0					15																	54306773		1827	4100	5927	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1673A>G	15.37:g.54306773A>G	ENSP00000260323:p.Gln558Arg		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q558R	ENST00000260323.11	37	c.1673	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273368	0.59649	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83075	-1.68;-1.68;-1.68	5.17	5.17	0.71159	.	.	.	.	.	D	0.84880	0.5570	L	0.27053	0.805	0.47698	D	0.999498	D	0.60160	0.987	D	0.67725	0.953	D	0.87005	0.2119	9	0.87932	D	0	.	14.3313	0.66559	1.0:0.0:0.0:0.0	.	558	Q8NB66	UN13C_HUMAN	R	558	ENSP00000260323:Q558R;ENSP00000438156:Q558R;ENSP00000442569:Q558R	ENSP00000260323:Q558R	Q	+	2	0	UNC13C	52094065	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	5.769000	0.68865	2.168000	0.68352	0.533000	0.62120	CAG	UNC13C	-	NULL	ENSG00000137766		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	31	0	A	NM_173166		54306773	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	11.43	28	4	SNP	0.999	G
UNC5B	219699	genome.wustl.edu	37	10	73044488	73044488	+	Missense_Mutation	SNP	C	C	T	rs546878424		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:73044488C>T	ENST00000335350.6	+	3	732	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R106C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	106	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTGCGGGTGCGCGAGGTGCA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14760	0.0		0.0	False		,,,				2504	0.0																0													62.0	59.0	60.0					10																	73044488		2203	4300	6503	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.316C>T	10.37:g.73044488C>T	ENSP00000334329:p.Arg106Cys		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.R106C	ENST00000335350.6	37	c.316	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935130	0.52866	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.24538	1.85;1.85	4.82	4.82	0.62117	Immunoglobulin-like fold (1);	0.058345	0.64402	D	0.000005	T	0.50205	0.1602	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51903	-0.8646	10	0.52906	T	0.07	-5.9091	13.7237	0.62745	0.1546:0.8454:0.0:0.0	.	106;106	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	106	ENSP00000334329:R106C;ENSP00000362288:R106C	ENSP00000334329:R106C	R	+	1	0	UNC5B	72714494	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	0.986000	0.29590	2.207000	0.71202	0.555000	0.69702	CGC	UNC5B	-	smart_Ig_sub	ENSG00000107731		0.672	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1		0.00	41	0	C	NM_170744		73044488	+1			no_errors	ENST00000335350	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
URGCP	55665	genome.wustl.edu	37	7	43918114	43918114	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:43918114C>A	ENST00000453200.1	-	6	1441	c.948G>T	c.(946-948)tgG>tgT	p.W316C	URGCP_ENST00000336086.6_Missense_Mutation_p.W273C|URGCP_ENST00000443736.1_Missense_Mutation_p.W273C|URGCP_ENST00000402306.3_Missense_Mutation_p.W307C|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.W273C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.W273C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	316					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGAAAAAACCAGGAAATTT	0.557																																																	0													56.0	58.0	57.0					7																	43918114		1879	4112	5991	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.948G>T	7.37:g.43918114C>A	ENSP00000396918:p.Trp316Cys		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.W316C	ENST00000453200.1	37	c.948	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784229	0.49997	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.61158	0.24;0.24;0.15;0.24;0.13;0.24	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	M	0.86178	2.8	0.58432	D	0.999998	B;B	0.30727	0.292;0.292	B;B	0.25614	0.062;0.062	T	0.66027	-0.6025	10	0.87932	D	0	-26.1024	13.7103	0.62665	0.1556:0.8444:0.0:0.0	.	307;316	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	273;273;307;273;316;273	ENSP00000223341:W273C;ENSP00000336872:W273C;ENSP00000384955:W307C;ENSP00000392136:W273C;ENSP00000396918:W316C;ENSP00000402803:W273C	ENSP00000223341:W273C	W	-	3	0	URGCP	43884639	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.342000	0.79310	1.377000	0.46286	-0.282000	0.10007	TGG	URGCP	-	NULL	ENSG00000106608		0.557	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1		0.00	44	0	C	NM_001077664		43918114	-1			no_errors	ENST00000453200	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216369967	216369967	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:216369967T>G	ENST00000307340.3	-	19	4565	c.4179A>C	c.(4177-4179)aaA>aaC	p.K1393N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.K1393N|USH2A_ENST00000366943.2_Missense_Mutation_p.K1393N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1393	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCCACAACTTTTCCTCTTG	0.408										HNSCC(13;0.011)																																							0													190.0	173.0	179.0					1																	216369967		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4179A>C	1.37:g.216369967T>G	ENSP00000305941:p.Lys1393Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1393N	ENST00000307340.3	37	c.4179	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049686	0.36181	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57752	0.38;0.38;0.38	5.96	0.798	0.18660	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.502303	0.16644	N	0.205483	T	0.35770	0.0943	L	0.40543	1.245	0.24173	N	0.995612	B;B	0.27625	0.005;0.183	B;B	0.31495	0.005;0.131	T	0.19289	-1.0310	10	0.19590	T	0.45	.	2.5642	0.04779	0.1215:0.1325:0.127:0.6191	.	1393;1393	O75445-2;O75445	.;USH2A_HUMAN	N	1393	ENSP00000305941:K1393N;ENSP00000355910:K1393N;ENSP00000355909:K1393N	ENSP00000305941:K1393N	K	-	3	2	USH2A	214436590	1.000000	0.71417	0.288000	0.24862	0.997000	0.91878	0.902000	0.28459	-0.111000	0.12001	0.533000	0.62120	AAA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	75	0	T	NM_007123		216369967	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	216369967	216369967	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:216369967T>G	ENST00000307340.3	-	19	4565	c.4179A>C	c.(4177-4179)aaA>aaC	p.K1393N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.K1393N|USH2A_ENST00000366943.2_Missense_Mutation_p.K1393N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1393	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCCACAACTTTTCCTCTTG	0.408										HNSCC(13;0.011)																																							0													190.0	173.0	179.0					1																	216369967		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4179A>C	1.37:g.216369967T>G	ENSP00000305941:p.Lys1393Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1393N	ENST00000307340.3	37	c.4179	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049686	0.36181	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57752	0.38;0.38;0.38	5.96	0.798	0.18660	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.502303	0.16644	N	0.205483	T	0.35770	0.0943	L	0.40543	1.245	0.24173	N	0.995612	B;B	0.27625	0.005;0.183	B;B	0.31495	0.005;0.131	T	0.19289	-1.0310	10	0.19590	T	0.45	.	2.5642	0.04779	0.1215:0.1325:0.127:0.6191	.	1393;1393	O75445-2;O75445	.;USH2A_HUMAN	N	1393	ENSP00000305941:K1393N;ENSP00000355910:K1393N;ENSP00000355909:K1393N	ENSP00000305941:K1393N	K	-	3	2	USH2A	214436590	1.000000	0.71417	0.288000	0.24862	0.997000	0.91878	0.902000	0.28459	-0.111000	0.12001	0.533000	0.62120	AAA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	90	0	T	NM_007123		216369967	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	G
USP17L2	377630	genome.wustl.edu	37	8	11996159	11996159	+	Silent	SNP	G	G	A	rs368449254		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:11996159G>A	ENST00000333796.3	-	1	427	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	37					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACTTCTCAGGGAGAGAAGTCC	0.517																																																	0								G		3,2241		0,3,1119	30.0	37.0	35.0		111	-0.7	0.0	8		35	0,5028		0,0,2514	no	coding-synonymous	USP17L2	NM_201402.2		0,3,3633	AA,AG,GG		0.0,0.1337,0.0413		37/531	11996159	3,7269	1122	2514	3636	SO:0001819	synonymous_variant	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.111C>T	8.37:g.11996159G>A				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L37	ENST00000333796.3	37	c.111	CCDS43713.1	8																																																																																			USP17L2	-	NULL	ENSG00000223443		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0.00	158	0	G	NM_201402		11996159	-1	tier1	-	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	6.72	125	9	SNP	0.023	A
USP2	9099	genome.wustl.edu	37	11	119228536	119228536	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:119228536G>A	ENST00000260187.2	-	10	1726	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	USP2_ENST00000525735.1_Missense_Mutation_p.R269C|USP2_ENST00000455332.2_Missense_Mutation_p.R235C	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	478	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCTCGGCAGCGACAGCATGTC	0.507																																																	0													201.0	215.0	210.0					11																	119228536		2199	4295	6494	SO:0001583	missense	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1432C>T	11.37:g.119228536G>A	ENSP00000260187:p.Arg478Cys		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R478C	ENST00000260187.2	37	c.1432	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492207	0.64074	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.03035	4.07;4.07;4.07	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.102877	0.64402	D	0.000005	T	0.17323	0.0416	M	0.86343	2.81	0.80722	D	1	B;B;D	0.76494	0.041;0.038;0.999	B;B;P	0.57244	0.057;0.027;0.816	T	0.00077	-1.2116	10	0.87932	D	0	-5.8885	13.8526	0.63506	0.0:0.0:0.8476:0.1524	.	235;478;269	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	C	235;478;225;269	ENSP00000407842:R235C;ENSP00000260187:R478C;ENSP00000436952:R269C	ENSP00000260187:R478C	R	-	1	0	USP2	118733746	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.599000	0.61076	2.725000	0.93324	0.655000	0.94253	CGC	USP2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000036672		0.507	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2	-	0.00	37	0	G	NM_171997		119228536	-1	tier1	-	no_errors	ENST00000260187	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A
USP2	9099	genome.wustl.edu	37	11	119228536	119228536	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:119228536G>A	ENST00000260187.2	-	10	1726	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	USP2_ENST00000525735.1_Missense_Mutation_p.R269C|USP2_ENST00000455332.2_Missense_Mutation_p.R235C	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	478	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCTCGGCAGCGACAGCATGTC	0.507																																																	0													201.0	215.0	210.0					11																	119228536		2199	4295	6494	SO:0001583	missense	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1432C>T	11.37:g.119228536G>A	ENSP00000260187:p.Arg478Cys		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R478C	ENST00000260187.2	37	c.1432	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492207	0.64074	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.03035	4.07;4.07;4.07	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.102877	0.64402	D	0.000005	T	0.17323	0.0416	M	0.86343	2.81	0.80722	D	1	B;B;D	0.76494	0.041;0.038;0.999	B;B;P	0.57244	0.057;0.027;0.816	T	0.00077	-1.2116	10	0.87932	D	0	-5.8885	13.8526	0.63506	0.0:0.0:0.8476:0.1524	.	235;478;269	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	C	235;478;225;269	ENSP00000407842:R235C;ENSP00000260187:R478C;ENSP00000436952:R269C	ENSP00000260187:R478C	R	-	1	0	USP2	118733746	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.599000	0.61076	2.725000	0.93324	0.655000	0.94253	CGC	USP2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000036672		0.507	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2	-	0.00	45	0	G	NM_171997		119228536	-1	tier1	-	no_errors	ENST00000260187	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22033007	22033007	+	Missense_Mutation	SNP	T	T	C	rs368720845		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:22033007T>C	ENST00000308271.9	-	17	2812	c.2164A>G	c.(2164-2166)Aat>Gat	p.N722D	USP48_ENST00000529637.1_Missense_Mutation_p.N734D|USP48_ENST00000400301.1_Missense_Mutation_p.N722D|USP48_ENST00000374732.3_Missense_Mutation_p.N260D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	722	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGGAACAAATTTGGGAGAGAA	0.373																																																	0								T	ASP/ASN	0,4406		0,0,2203	123.0	127.0	125.0		2164	5.8	1.0	1		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP48	NM_032236.5	23	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	722/1036	22033007	1,13005	2203	4300	6503	SO:0001583	missense	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2164A>G	1.37:g.22033007T>C	ENSP00000309262:p.Asn722Asp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.N722D	ENST00000308271.9	37	c.2164	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547786	0.45383	0.0	1.16E-4	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.04406	3.63;3.63;3.67	5.84	5.84	0.93424	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.41415	1.275	0.80722	D	1	D;B;B;B;P	0.71674	0.998;0.07;0.347;0.076;0.884	D;B;B;B;B	0.76071	0.987;0.006;0.12;0.014;0.275	T	0.25467	-1.0131	10	0.20046	T	0.44	.	15.3935	0.74767	0.0:0.0:0.0:1.0	.	734;722;722;722;260	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	D	722;722;260;734	ENSP00000383157:N722D;ENSP00000309262:N722D;ENSP00000431949:N734D	ENSP00000309262:N722D	N	-	1	0	USP48	21905594	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	6.948000	0.75965	2.231000	0.72958	0.455000	0.32223	AAT	USP48	-	NULL	ENSG00000090686		0.373	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	-	0.00	87	0	T	NM_032236		22033007	-1	tier1	-	no_errors	ENST00000308271	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.999	C
VGF	7425	genome.wustl.edu	37	7	100806935	100806936	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:100806935_100806936delCT	ENST00000249330.2	-	2	1428_1429	c.1189_1190delAG	c.(1189-1191)aggfs	p.R397fs	VGF_ENST00000445482.2_Frame_Shift_Del_p.R397fs	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	397	Asp/Glu-rich (acidic).				defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCCGCGCCCTctccgcctcc	0.743																																																	0																																										SO:0001589	frameshift_variant	0			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1189_1190delAG	7.37:g.100806937_100806938delCT	ENSP00000249330:p.Arg397fs		Q9UDW8	Frame_Shift_Del	DEL	NULL	p.R397fs	ENST00000249330.2	37	c.1190_1189	CCDS5712.1	7																																																																																			VGF	-	NULL	ENSG00000128564		0.743	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1		0.00	47	0	CT	NM_003378		100806936	-1	tier1		no_errors	ENST00000249330	ensembl	human	known	74_37	frame_shift_del	13.46	45	7	DEL	1.000:1.000	-
VPS13A	23230	genome.wustl.edu	37	9	79954671	79954671	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:79954671G>A	ENST00000360280.3	+	48	6878	c.6618G>A	c.(6616-6618)caG>caA	p.Q2206Q	VPS13A_ENST00000376634.4_Silent_p.Q2206Q|VPS13A_ENST00000376636.3_Silent_p.Q2167Q|VPS13A_ENST00000357409.5_Silent_p.Q2206Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2206					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACTGGTCAGACAGTTGTGG	0.373																																																	0													147.0	140.0	143.0					9																	79954671		2203	4299	6502	SO:0001819	synonymous_variant	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6618G>A	9.37:g.79954671G>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q2206	ENST00000360280.3	37	c.6618	CCDS6655.1	9																																																																																			VPS13A	-	NULL	ENSG00000197969		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0.00	35	0	G	NM_015186		79954671	+1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.249	A
VPS13A	23230	genome.wustl.edu	37	9	79954671	79954671	+	Silent	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:79954671G>A	ENST00000360280.3	+	48	6878	c.6618G>A	c.(6616-6618)caG>caA	p.Q2206Q	VPS13A_ENST00000376634.4_Silent_p.Q2206Q|VPS13A_ENST00000376636.3_Silent_p.Q2167Q|VPS13A_ENST00000357409.5_Silent_p.Q2206Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2206					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACTGGTCAGACAGTTGTGG	0.373																																																	0													147.0	140.0	143.0					9																	79954671		2203	4299	6502	SO:0001819	synonymous_variant	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6618G>A	9.37:g.79954671G>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q2206	ENST00000360280.3	37	c.6618	CCDS6655.1	9																																																																																			VPS13A	-	NULL	ENSG00000197969		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0.00	54	0	G	NM_015186		79954671	+1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.249	A
VPS33A	65082	genome.wustl.edu	37	12	122750679	122750680	+	Intron	INS	-	-	C	rs573638817|rs146100866	byFrequency	TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:122750679_122750680insC	ENST00000267199.4	-	1	215				RP11-512M8.5_ENST00000535844.1_Intron|VPS33A_ENST00000451053.2_Intron|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TACGCCCAGGGCCCCCCCCTTC	0.619													cCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	414	0.0826677	0.1929	0.0432	5008	,	,		18334	0.0079		0.0636	False		,,,				2504	0.0583																0																																										SO:0001627	intron_variant	0			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.102+173->G	12.37:g.122750687_122750687dupC			Q547V4|Q9H5Q0	RNA	INS	-	NULL	ENST00000267199.4	37	NULL	CCDS9231.1	12																																																																																			VPS33A	-	-	ENSG00000139719		0.619	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	HGNC	protein_coding	OTTHUMT00000401607.2		0.00	11	0	-			122750680	-1	tier1		no_errors	ENST00000542310	ensembl	human	known	74_37	rna	41.18	10	7	INS	0.000:0.000	C
VWF	7450	genome.wustl.edu	37	12	6155919	6155919	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:6155919C>T	ENST00000261405.5	-	17	2505	c.2251G>A	c.(2251-2253)Gct>Act	p.A751T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	751					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAGGACAGCGTCAGGCAGC	0.567																																																	0													146.0	117.0	127.0					12																	6155919		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2251G>A	12.37:g.6155919C>T	ENSP00000261405:p.Ala751Thr		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A751T	ENST00000261405.5	37	c.2251	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010940	0.02095	.	.	ENSG00000110799	ENST00000261405	T	0.35421	1.31	3.46	-6.92	0.01644	.	2.308370	0.02467	N	0.087131	T	0.15912	0.0383	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16689	-1.0394	10	0.12766	T	0.61	.	3.9929	0.09545	0.2102:0.561:0.1059:0.1229	.	751	P04275	VWF_HUMAN	T	751	ENSP00000261405:A751T	ENSP00000261405:A751T	A	-	1	0	VWF	6026180	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-3.474000	0.00458	-2.294000	0.00663	-0.339000	0.08088	GCT	VWF	-	pirsf_VWF	ENSG00000110799		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	29	0	C	NM_000552		6155919	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T
VWF	7450	genome.wustl.edu	37	12	6155919	6155919	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr12:6155919C>T	ENST00000261405.5	-	17	2505	c.2251G>A	c.(2251-2253)Gct>Act	p.A751T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	751					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAGGACAGCGTCAGGCAGC	0.567																																																	0													146.0	117.0	127.0					12																	6155919		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2251G>A	12.37:g.6155919C>T	ENSP00000261405:p.Ala751Thr		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A751T	ENST00000261405.5	37	c.2251	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010940	0.02095	.	.	ENSG00000110799	ENST00000261405	T	0.35421	1.31	3.46	-6.92	0.01644	.	2.308370	0.02467	N	0.087131	T	0.15912	0.0383	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16689	-1.0394	10	0.12766	T	0.61	.	3.9929	0.09545	0.2102:0.561:0.1059:0.1229	.	751	P04275	VWF_HUMAN	T	751	ENSP00000261405:A751T	ENSP00000261405:A751T	A	-	1	0	VWF	6026180	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-3.474000	0.00458	-2.294000	0.00663	-0.339000	0.08088	GCT	VWF	-	pirsf_VWF	ENSG00000110799		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	67	0	C	NM_000552		6155919	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T
WASF2	10163	genome.wustl.edu	37	1	27736341	27736341	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:27736341G>A	ENST00000430629.2	-	8	1399	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		aggaggaggagggggaggagg	0.647																																																	0													52.0	53.0	53.0					1																	27736341		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1184C>T	1.37:g.27736341G>A	ENSP00000396211:p.Pro395Leu		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P395L	ENST00000430629.2	37	c.1184	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066319	0.36470	.	.	ENSG00000158195	ENST00000430629	T	0.57907	0.37	4.53	4.53	0.55603	.	0.264309	0.36628	N	0.002485	T	0.70116	0.3187	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67891	-0.5553	10	0.23302	T	0.38	-5.9765	16.9188	0.86158	0.0:0.0:1.0:0.0	.	395	Q9Y6W5	WASF2_HUMAN	L	395	ENSP00000396211:P395L	ENSP00000396211:P395L	P	-	2	0	WASF2	27608928	1.000000	0.71417	0.298000	0.25002	0.713000	0.41058	5.646000	0.67916	2.086000	0.62901	0.539000	0.68188	CCT	WASF2	-	NULL	ENSG00000158195		0.647	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	-	0.00	129	0	G	NM_006990		27736341	-1	tier1	-	no_errors	ENST00000430629	ensembl	human	known	74_37	missense	24.35	87	28	SNP	0.995	A
WBSCR17	64409	genome.wustl.edu	37	7	70885939	70885939	+	Silent	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:70885939G>C	ENST00000333538.5	+	5	1444	c.810G>C	c.(808-810)gtG>gtC	p.V270V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	270					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGCGTGTGATCCTCCCCT	0.537																																																	0													203.0	187.0	193.0					7																	70885939		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.810G>C	7.37:g.70885939G>C			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V270	ENST00000333538.5	37	c.810	CCDS5540.1	7																																																																																			WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	51	0	G	NM_022479		70885939	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	silent	8.00	69	6	SNP	0.998	C
WBSCR17	64409	genome.wustl.edu	37	7	70885939	70885939	+	Silent	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:70885939G>C	ENST00000333538.5	+	5	1444	c.810G>C	c.(808-810)gtG>gtC	p.V270V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	270					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGCGTGTGATCCTCCCCT	0.537																																																	0													203.0	187.0	193.0					7																	70885939		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.810G>C	7.37:g.70885939G>C			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V270	ENST00000333538.5	37	c.810	CCDS5540.1	7																																																																																			WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0.00	87	0	G	NM_022479		70885939	+1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	silent	8.00	69	6	SNP	0.998	C
WDFY4	57705	genome.wustl.edu	37	10	50098685	50098685	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50098685T>A	ENST00000325239.5	+	43	7256	c.7229T>A	c.(7228-7230)cTt>cAt	p.L2410H	WDFY4_ENST00000413659.2_3'UTR|RP11-523O18.7_ENST00000430438.1_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2410						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						GGGGTCCTGCTTTTTGGCCAC	0.542																																																	0													124.0	97.0	105.0					10																	50098685		692	1591	2283	SO:0001583	missense	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.7229T>A	10.37:g.50098685T>A	ENSP00000320563:p.Leu2410His		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	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.L2410H	ENST00000325239.5	37	c.7229	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.81|19.81	3.896166|3.896166	0.72639|0.72639	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000426033;ENST00000325239	.|T	.|0.63580	.|-0.05	4.97|4.97	4.97|4.97	0.65823|0.65823	.|PH-BEACH domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77370|0.77370	0.4120|0.4120	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.78713|0.78713	-0.2097|-0.2097	5|9	.|.	.|.	.|.	.|.	11.3425|11.3425	0.49541|0.49541	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2410	.|Q6ZS81	.|WDFY4_HUMAN	I|H	497|2410	.|ENSP00000320563:L2410H	.|.	F|L	+|+	1|2	0|0	WDFY4|WDFY4	49768691|49768691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.314000|4.314000	0.59166|0.59166	1.987000|1.987000	0.57996|0.57996	0.459000|0.459000	0.35465|0.35465	TTT|CTT	WDFY4	-	NULL	ENSG00000128815		0.542	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		-	0.00	69	0	T	XM_033379		50098685	+1	tier1	-	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	8.57	63	6	SNP	1.000	A
WDFY4	57705	genome.wustl.edu	37	10	50098685	50098685	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:50098685T>A	ENST00000325239.5	+	43	7256	c.7229T>A	c.(7228-7230)cTt>cAt	p.L2410H	WDFY4_ENST00000413659.2_3'UTR|RP11-523O18.7_ENST00000430438.1_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2410						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						GGGGTCCTGCTTTTTGGCCAC	0.542																																																	0													124.0	97.0	105.0					10																	50098685		692	1591	2283	SO:0001583	missense	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.7229T>A	10.37:g.50098685T>A	ENSP00000320563:p.Leu2410His		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	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.L2410H	ENST00000325239.5	37	c.7229	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.81|19.81	3.896166|3.896166	0.72639|0.72639	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000426033;ENST00000325239	.|T	.|0.63580	.|-0.05	4.97|4.97	4.97|4.97	0.65823|0.65823	.|PH-BEACH domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77370|0.77370	0.4120|0.4120	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.78713|0.78713	-0.2097|-0.2097	5|9	.|.	.|.	.|.	.|.	11.3425|11.3425	0.49541|0.49541	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2410	.|Q6ZS81	.|WDFY4_HUMAN	I|H	497|2410	.|ENSP00000320563:L2410H	.|.	F|L	+|+	1|2	0|0	WDFY4|WDFY4	49768691|49768691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.314000|4.314000	0.59166|0.59166	1.987000|1.987000	0.57996|0.57996	0.459000|0.459000	0.35465|0.35465	TTT|CTT	WDFY4	-	NULL	ENSG00000128815		0.542	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		-	0.00	82	0	T	XM_033379		50098685	+1	tier1	-	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	8.57	63	6	SNP	1.000	A
WT1	7490	genome.wustl.edu	37	11	32456398	32456398	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:32456398G>A	ENST00000332351.3	-	1	778	c.494C>T	c.(493-495)tCc>tTc	p.S165F	WT1-AS_ENST00000395900.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.S165F|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	97					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAACTGGCCGGAAAAGTGGAC	0.682			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	0													17.0	19.0	18.0					11																	32456398		2200	4291	6491	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.494C>T	11.37:g.32456398G>A	ENSP00000331327:p.Ser165Phe		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.S165F	ENST00000332351.3	37	c.494	CCDS7878.2	11	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554596	0.65425	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.88975	-2.45;-2.45;-2.45	3.06	2.13	0.27403	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000005	D	0.91050	0.7184	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.72338	0.977;0.977;0.977	D	0.89586	0.3824	10	0.87932	D	0	.	8.4355	0.32784	0.1139:0.0:0.8861:0.0	.	170;97;170	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	F	165	ENSP00000331327:S165F;ENSP00000415516:S165F;ENSP00000413452:S165F	ENSP00000331327:S165F	S	-	2	0	WT1	32412974	1.000000	0.71417	0.857000	0.33713	0.643000	0.38383	7.224000	0.78042	0.587000	0.29643	0.462000	0.41574	TCC	WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.682	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2	-	0.00	139	0	G	NM_000378		32456398	-1	tier1	-	no_errors	ENST00000332351	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.993	A
WNT11	7481	genome.wustl.edu	37	11	75905725	75905725	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:75905725G>T	ENST00000322563.3	-	3	607	c.483C>A	c.(481-483)ctC>ctA	p.L161L	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	161					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCCCGTAGCTGAGGTTGTCCG	0.627																																																	0													48.0	40.0	43.0					11																	75905725		1877	3656	5533	SO:0001819	synonymous_variant	0			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.483C>A	11.37:g.75905725G>T			B2R8Z6|Q14DE8|Q8WZ98	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.L161	ENST00000322563.3	37	c.483	CCDS8242.1	11																																																																																			WNT11	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000085741		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	-	0.00	153	0	G	NM_004626		75905725	-1	tier1	-	no_errors	ENST00000322563	ensembl	human	known	74_37	silent	6.99	133	10	SNP	1.000	T
WNT11	7481	genome.wustl.edu	37	11	75905725	75905725	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:75905725G>T	ENST00000322563.3	-	3	607	c.483C>A	c.(481-483)ctC>ctA	p.L161L	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	161					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCCCGTAGCTGAGGTTGTCCG	0.627																																																	0													48.0	40.0	43.0					11																	75905725		1877	3656	5533	SO:0001819	synonymous_variant	0			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.483C>A	11.37:g.75905725G>T			B2R8Z6|Q14DE8|Q8WZ98	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.L161	ENST00000322563.3	37	c.483	CCDS8242.1	11																																																																																			WNT11	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000085741		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	-	0.00	194	0	G	NM_004626		75905725	-1	tier1	-	no_errors	ENST00000322563	ensembl	human	known	74_37	silent	6.99	133	10	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168101667	168101667	+	Missense_Mutation	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:168101667A>T	ENST00000409195.1	+	9	3854	c.3765A>T	c.(3763-3765)caA>caT	p.Q1255H	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1255H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1033H|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1080					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAAAGCCAAGAAGGTGATG	0.338																																																	0													124.0	120.0	121.0					2																	168101667		1840	4093	5933	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3765A>T	2.37:g.168101667A>T	ENSP00000386840:p.Gln1255His		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.Q1255H	ENST00000409195.1	37	c.3765	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	4.782	0.145476	0.09134	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	5.78	4.61	0.57282	.	0.540293	0.21231	N	0.077970	T	0.02767	0.0083	N	0.25144	0.715	0.31718	N	0.638688	B;B;B	0.20671	0.013;0.047;0.004	B;B;B	0.18263	0.007;0.021;0.01	T	0.14924	-1.0455	10	0.33940	T	0.23	-8.0435	12.2701	0.54702	0.8579:0.1421:0.0:0.0	.	1080;1080;1033	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	1255;1255;1033	ENSP00000386840:Q1255H;ENSP00000295237:Q1255H;ENSP00000387255:Q1033H	ENSP00000295237:Q1255H	Q	+	3	2	XIRP2	167809913	0.236000	0.23804	0.987000	0.45799	0.759000	0.43091	0.207000	0.17395	1.003000	0.39130	0.460000	0.39030	CAA	XIRP2	-	NULL	ENSG00000163092		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	69	0	A	NM_152381		168101667	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	13.51	64	10	SNP	0.853	T
XPNPEP1	7511	genome.wustl.edu	37	10	111639974	111639974	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr10:111639974C>T	ENST00000502935.1	-	12	1273	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.C342Y|XPNPEP1_ENST00000430337.1_5'Flank|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.C271Y|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.C385Y					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGAGTTCACAGAGAGCAAC	0.368																																																	0													134.0	130.0	131.0					10																	111639974		2203	4300	6503	SO:0001583	missense	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1154G>A	10.37:g.111639974C>T	ENSP00000421566:p.Cys385Tyr			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.C385Y	ENST00000502935.1	37	c.1154	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701857	0.88924	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.67	5.67	0.87782	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90352	0.6981	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.92601	0.6091	10	0.87932	D	0	-11.8238	17.9392	0.89022	0.0:1.0:0.0:0.0	.	385;385;342	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	Y	385;271;385;342	ENSP00000421566:C385Y;ENSP00000358697:C271Y;ENSP00000324011:C385Y;ENSP00000358694:C342Y	ENSP00000324011:C385Y	C	-	2	0	XPNPEP1	111629964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.672000	0.90937	0.557000	0.71058	TGT	XPNPEP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000108039		0.368	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	-	0.00	72	0	C			111639974	-1	tier1	-	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	25.00	54	18	SNP	1.000	T
XXYLT1	152002	genome.wustl.edu	37	3	194790544	194790544	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:194790544C>T	ENST00000310380.6	-	4	1190	c.1082G>A	c.(1081-1083)aGg>aAg	p.R361K	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R158K|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R158K|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R155K|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R215K	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	361						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GCCATGGTCCCTCCACCAGGT	0.587																																																	0													66.0	73.0	71.0					3																	194790544		2131	4247	6378	SO:0001583	missense	0			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.1082G>A	3.37:g.194790544C>T	ENSP00000309640:p.Arg361Lys		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R361K	ENST00000310380.6	37	c.1082	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026408	0.35701	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	4.08	0.47627	.	0.096175	0.64402	D	0.000001	T	0.12347	0.0300	N	0.17278	0.47	0.47511	D	0.999442	B;B;B	0.24258	0.022;0.005;0.1	B;B;B	0.23574	0.038;0.006;0.047	T	0.08351	-1.0726	10	0.06365	T	0.9	-15.8787	9.0224	0.36209	0.0:0.7567:0.0:0.2433	.	361;158;155	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	K	361;158;158;215;155;157	ENSP00000309640:R361K;ENSP00000409865:R158K;ENSP00000347967:R158K;ENSP00000399422:R215K;ENSP00000349179:R155K	ENSP00000309640:R361K	R	-	2	0	C3orf21	196271833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	2.797000	0.96272	0.563000	0.77884	AGG	XXYLT1	-	NULL	ENSG00000173950		0.587	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	-	0.00	51	0	C	NM_152531		194790544	-1	tier1	-	no_errors	ENST00000310380	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
XXYLT1	152002	genome.wustl.edu	37	3	194790544	194790544	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr3:194790544C>T	ENST00000310380.6	-	4	1190	c.1082G>A	c.(1081-1083)aGg>aAg	p.R361K	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R158K|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R158K|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R155K|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R215K	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	361						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GCCATGGTCCCTCCACCAGGT	0.587																																																	0													66.0	73.0	71.0					3																	194790544		2131	4247	6378	SO:0001583	missense	0			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.1082G>A	3.37:g.194790544C>T	ENSP00000309640:p.Arg361Lys		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R361K	ENST00000310380.6	37	c.1082	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026408	0.35701	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	4.08	0.47627	.	0.096175	0.64402	D	0.000001	T	0.12347	0.0300	N	0.17278	0.47	0.47511	D	0.999442	B;B;B	0.24258	0.022;0.005;0.1	B;B;B	0.23574	0.038;0.006;0.047	T	0.08351	-1.0726	10	0.06365	T	0.9	-15.8787	9.0224	0.36209	0.0:0.7567:0.0:0.2433	.	361;158;155	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	K	361;158;158;215;155;157	ENSP00000309640:R361K;ENSP00000409865:R158K;ENSP00000347967:R158K;ENSP00000399422:R215K;ENSP00000349179:R155K	ENSP00000309640:R361K	R	-	2	0	C3orf21	196271833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	2.797000	0.96272	0.563000	0.77884	AGG	XXYLT1	-	NULL	ENSG00000173950		0.587	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	-	0.00	80	0	C	NM_152531		194790544	-1	tier1	-	no_errors	ENST00000310380	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
YTHDF3	253943	genome.wustl.edu	37	8	64124371	64124371	+	3'UTR	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:64124371A>T	ENST00000517371.1	+	0	2490				YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			agtgcctttaacctggatttc	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2107A>T	8.37:g.64124371A>T			B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.358	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	-	0.00	56	0	A	NM_152758		64124371	+1	tier1	-	no_errors	ENST00000521674	ensembl	human	known	74_37	rna	6.76	69	5	SNP	1.000	T
YTHDF3	253943	genome.wustl.edu	37	8	64124371	64124371	+	3'UTR	SNP	A	A	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr8:64124371A>T	ENST00000517371.1	+	0	2490				YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			agtgcctttaacctggatttc	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2107A>T	8.37:g.64124371A>T			B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.358	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	-	0.00	91	0	A	NM_152758		64124371	+1	tier1	-	no_errors	ENST00000521674	ensembl	human	known	74_37	rna	6.76	69	5	SNP	1.000	T
ZBTB25	7597	genome.wustl.edu	37	14	64953924	64953924	+	Missense_Mutation	SNP	G	G	C	rs142507817		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr14:64953924G>C	ENST00000608382.1	-	3	1216	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.S342C	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	342					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S342F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CCTTGAAAAAGAAAAATTACA	0.403																																																	1	Substitution - Missense(1)	skin(1)											104.0	111.0	108.0					14																	64953924		2203	4300	6503	SO:0001583	missense	0			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.1025C>G	14.37:g.64953924G>C	ENSP00000476746:p.Ser342Cys		B3KUX6|Q8IYH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S342C	ENST00000608382.1	37	c.1025	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334439	0.60853	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.24723	1.84;1.84	5.97	5.97	0.96955	.	0.140827	0.49916	D	0.000139	T	0.39886	0.1095	L	0.27053	0.805	0.43275	D	0.995234	D	0.76494	0.999	D	0.65573	0.936	T	0.07102	-1.0790	10	0.48119	T	0.1	-16.2397	20.0492	0.97617	0.0:0.0:1.0:0.0	.	342	P24278	ZBT25_HUMAN	C	342	ENSP00000261683:S342C;ENSP00000378204:S342C	ENSP00000261683:S342C	S	-	2	0	ZBTB25	64023677	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.191000	0.89716	2.836000	0.97738	0.655000	0.94253	TCT	ZBTB25	-	NULL	ENSG00000089775		0.403	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2		0.00	21	0	G	NM_006977		64953924	-1			no_errors	ENST00000394715	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.993	C
ZBTB7B	51043	genome.wustl.edu	37	1	154987149	154987149	+	Missense_Mutation	SNP	G	G	A	rs376255260		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154987149G>A	ENST00000368426.3	+	3	150	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E5K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E39K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E5K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	5					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGAGCCCCGAGGATGACCT	0.567																																																	0													44.0	49.0	47.0					1																	154987149		2203	4300	6503	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.13G>A	1.37:g.154987149G>A	ENSP00000357411:p.Glu5Lys		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E39K	ENST00000368426.3	37	c.115	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381092	0.61845	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.02;3.02;3.0;3.02	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.12092	0.0294	L	0.39397	1.21	0.41127	D	0.985859	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61003	0.882;0.768;0.882	T	0.02026	-1.1227	10	0.59425	D	0.04	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	5;5;39	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	5;5;39;5	ENSP00000438647:E5K;ENSP00000357411:E5K;ENSP00000406286:E39K;ENSP00000292176:E5K	ENSP00000292176:E5K	E	+	1	0	ZBTB7B	153253773	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	2.800000	0.47900	1.827000	0.53221	0.462000	0.41574	GAG	ZBTB7B	-	NULL	ENSG00000160685		0.567	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0.00	54	0	G	NM_015872		154987149	+1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	A
ZBTB7B	51043	genome.wustl.edu	37	1	154987149	154987149	+	Missense_Mutation	SNP	G	G	A	rs376255260		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr1:154987149G>A	ENST00000368426.3	+	3	150	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E5K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E39K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E5K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	5					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGAGCCCCGAGGATGACCT	0.567																																																	0													44.0	49.0	47.0					1																	154987149		2203	4300	6503	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.13G>A	1.37:g.154987149G>A	ENSP00000357411:p.Glu5Lys		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E39K	ENST00000368426.3	37	c.115	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381092	0.61845	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.02;3.02;3.0;3.02	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.12092	0.0294	L	0.39397	1.21	0.41127	D	0.985859	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61003	0.882;0.768;0.882	T	0.02026	-1.1227	10	0.59425	D	0.04	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	5;5;39	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	5;5;39;5	ENSP00000438647:E5K;ENSP00000357411:E5K;ENSP00000406286:E39K;ENSP00000292176:E5K	ENSP00000292176:E5K	E	+	1	0	ZBTB7B	153253773	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	2.800000	0.47900	1.827000	0.53221	0.462000	0.41574	GAG	ZBTB7B	-	NULL	ENSG00000160685		0.567	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0.00	99	0	G	NM_015872		154987149	+1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	A
ZC3H18	124245	genome.wustl.edu	37	16	88691110	88691110	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:88691110G>A	ENST00000301011.5	+	12	2199	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E691K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	667	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGACCCTCGGGAAGCCAGGAG	0.672																																					Ovarian(121;375 2276 20373 38669)												0													30.0	46.0	41.0					16																	88691110		2196	4298	6494	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1999G>A	16.37:g.88691110G>A	ENSP00000301011:p.Glu667Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E667K	ENST00000301011.5	37	c.1999	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794472	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32988	1.43;1.46	5.38	5.38	0.77491	.	0.162008	0.52532	D	0.000065	T	0.41858	0.1177	L	0.33485	1.01	0.47778	D	0.999516	D;D	0.58268	0.982;0.982	P;P	0.58013	0.831;0.831	T	0.31138	-0.9954	10	0.87932	D	0	-16.4804	17.3162	0.87225	0.0:0.0:1.0:0.0	.	691;667	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	667;635;691	ENSP00000301011:E667K;ENSP00000416951:E691K	ENSP00000289509:E635K	E	+	1	0	ZC3H18	87218611	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.816000	0.75247	2.527000	0.85204	0.655000	0.94253	GAA	ZC3H18	-	NULL	ENSG00000158545		0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0.00	68	0	G	NM_144604		88691110	+1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	A
ZC3H18	124245	genome.wustl.edu	37	16	88691110	88691110	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:88691110G>A	ENST00000301011.5	+	12	2199	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E691K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	667	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGACCCTCGGGAAGCCAGGAG	0.672																																					Ovarian(121;375 2276 20373 38669)												0													30.0	46.0	41.0					16																	88691110		2196	4298	6494	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1999G>A	16.37:g.88691110G>A	ENSP00000301011:p.Glu667Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E667K	ENST00000301011.5	37	c.1999	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794472	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32988	1.43;1.46	5.38	5.38	0.77491	.	0.162008	0.52532	D	0.000065	T	0.41858	0.1177	L	0.33485	1.01	0.47778	D	0.999516	D;D	0.58268	0.982;0.982	P;P	0.58013	0.831;0.831	T	0.31138	-0.9954	10	0.87932	D	0	-16.4804	17.3162	0.87225	0.0:0.0:1.0:0.0	.	691;667	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	667;635;691	ENSP00000301011:E667K;ENSP00000416951:E691K	ENSP00000289509:E635K	E	+	1	0	ZC3H18	87218611	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.816000	0.75247	2.527000	0.85204	0.655000	0.94253	GAA	ZC3H18	-	NULL	ENSG00000158545		0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0.00	81	0	G	NM_144604		88691110	+1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	A
ZEB2	9839	genome.wustl.edu	37	2	145156009	145156009	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:145156009G>T	ENST00000558170.2	-	8	3929	c.2745C>A	c.(2743-2745)acC>acA	p.T915T	ZEB2_ENST00000303660.4_Silent_p.T915T|ZEB2_ENST00000539609.3_Silent_p.T891T|ZEB2_ENST00000409487.3_Silent_p.T915T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	915					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGGAATACTGGTCTGGACTG	0.498																																					Melanoma(33;1235 1264 5755 16332)												0													172.0	167.0	169.0					2																	145156009		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2745C>A	2.37:g.145156009G>T			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.T915	ENST00000558170.2	37	c.2745	CCDS2186.1	2																																																																																			ZEB2	-	NULL	ENSG00000169554		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0.00	49	0	G	NM_014795		145156009	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	silent	10.91	49	6	SNP	1.000	T
ZEB2	9839	genome.wustl.edu	37	2	145156009	145156009	+	Silent	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr2:145156009G>T	ENST00000558170.2	-	8	3929	c.2745C>A	c.(2743-2745)acC>acA	p.T915T	ZEB2_ENST00000303660.4_Silent_p.T915T|ZEB2_ENST00000539609.3_Silent_p.T891T|ZEB2_ENST00000409487.3_Silent_p.T915T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	915					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGGAATACTGGTCTGGACTG	0.498																																					Melanoma(33;1235 1264 5755 16332)												0													172.0	167.0	169.0					2																	145156009		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2745C>A	2.37:g.145156009G>T			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.T915	ENST00000558170.2	37	c.2745	CCDS2186.1	2																																																																																			ZEB2	-	NULL	ENSG00000169554		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0.00	54	0	G	NM_014795		145156009	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	silent	10.91	49	6	SNP	1.000	T
ZMYM2	7750	genome.wustl.edu	37	13	20593738	20593741	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs372944276		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	TCTT	TCTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr13:20593738_20593741delTCTT	ENST00000382874.2	+	8	1754_1757	c.1564_1567delTCTT	c.(1564-1569)tctttcfs	p.SF522fs	ZMYM2_ENST00000382883.3_Frame_Shift_Del_p.SF4fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.SF435fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.SF522fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.SF522fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CATGCAGGACTCTTTCTTAATGCA	0.373																																																	0																																										SO:0001589	frameshift_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1564_1567delTCTT	13.37:g.20593742_20593745delTCTT	ENSP00000372327:p.Ser522fs		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.F523fs	ENST00000382874.2	37	c.1564_1567	CCDS45016.1	13																																																																																			ZMYM2	-	NULL	ENSG00000121741		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0.00	81	0	TCTT	NM_003453		20593741	+1			no_errors	ENST00000382869	ensembl	human	known	74_37	frame_shift_del	8.70	84	8	DEL	1.000:1.000:0.998:0.994	0
ZNF143	7702	genome.wustl.edu	37	11	9496117	9496117	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:9496117G>C	ENST00000396602.2	+	5	429	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	ZNF143_ENST00000396604.1_Missense_Mutation_p.E103Q|ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000396597.3_Missense_Mutation_p.E73Q|ZNF143_ENST00000530463.1_Missense_Mutation_p.E103Q	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	104					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTGCGTCTAGAGGATGGTCA	0.373																																																	0													163.0	142.0	149.0					11																	9496117		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.310G>C	11.37:g.9496117G>C	ENSP00000379847:p.Glu104Gln		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E104Q	ENST00000396602.2	37	c.310	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	30	5.054575	0.93793	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.66;2.69;2.71;2.69;0.69;0.68;2.84;0.57;0.5;0.57;0.68	5.62	5.62	0.85841	.	0.149707	0.45126	D	0.000388	T	0.69097	0.3073	L	0.54323	1.7	0.80722	D	1	D;D;D	0.63880	0.989;0.981;0.993	D;D;D	0.72982	0.979;0.954;0.979	T	0.64219	-0.6459	10	0.33940	T	0.23	.	19.6576	0.95849	0.0:0.0:1.0:0.0	.	73;103;104	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Q	104;103;104;103;72;103;73;104;104;104;103	ENSP00000434638:E104Q;ENSP00000379849:E103Q;ENSP00000379847:E104Q;ENSP00000432154:E103Q;ENSP00000434922:E72Q;ENSP00000433221:E103Q;ENSP00000379843:E73Q;ENSP00000409432:E104Q;ENSP00000435881:E104Q;ENSP00000433743:E104Q;ENSP00000388628:E103Q	ENSP00000379843:E73Q	E	+	1	0	ZNF143	9452693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.206000	0.95056	2.651000	0.90000	0.650000	0.86243	GAG	ZNF143	-	NULL	ENSG00000166478		0.373	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	-	0.00	64	0	G	NM_003442		9496117	+1	tier1	-	no_errors	ENST00000396602	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C
ZNF143	7702	genome.wustl.edu	37	11	9496117	9496117	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr11:9496117G>C	ENST00000396602.2	+	5	429	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	ZNF143_ENST00000396604.1_Missense_Mutation_p.E103Q|ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000396597.3_Missense_Mutation_p.E73Q|ZNF143_ENST00000530463.1_Missense_Mutation_p.E103Q	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	104					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTGCGTCTAGAGGATGGTCA	0.373																																																	0													163.0	142.0	149.0					11																	9496117		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.310G>C	11.37:g.9496117G>C	ENSP00000379847:p.Glu104Gln		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E104Q	ENST00000396602.2	37	c.310	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	30	5.054575	0.93793	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.66;2.69;2.71;2.69;0.69;0.68;2.84;0.57;0.5;0.57;0.68	5.62	5.62	0.85841	.	0.149707	0.45126	D	0.000388	T	0.69097	0.3073	L	0.54323	1.7	0.80722	D	1	D;D;D	0.63880	0.989;0.981;0.993	D;D;D	0.72982	0.979;0.954;0.979	T	0.64219	-0.6459	10	0.33940	T	0.23	.	19.6576	0.95849	0.0:0.0:1.0:0.0	.	73;103;104	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Q	104;103;104;103;72;103;73;104;104;104;103	ENSP00000434638:E104Q;ENSP00000379849:E103Q;ENSP00000379847:E104Q;ENSP00000432154:E103Q;ENSP00000434922:E72Q;ENSP00000433221:E103Q;ENSP00000379843:E73Q;ENSP00000409432:E104Q;ENSP00000435881:E104Q;ENSP00000433743:E104Q;ENSP00000388628:E103Q	ENSP00000379843:E73Q	E	+	1	0	ZNF143	9452693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.206000	0.95056	2.651000	0.90000	0.650000	0.86243	GAG	ZNF143	-	NULL	ENSG00000166478		0.373	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	-	0.00	65	0	G	NM_003442		9496117	+1	tier1	-	no_errors	ENST00000396602	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C
ZNF24	7572	genome.wustl.edu	37	18	32917454	32917454	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr18:32917454C>T	ENST00000261332.6	-	4	1028	c.849G>A	c.(847-849)gaG>gaA	p.E283E	ZNF24_ENST00000399061.3_Silent_p.E283E|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	283	Necessary and sufficient for nuclear localization.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CTTTCCCACACTCAACACATC	0.423																																					Colon(42;769 913 8916 19469 46270)												0													111.0	114.0	113.0					18																	32917454		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.849G>A	18.37:g.32917454C>T			O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E283	ENST00000261332.6	37	c.849	CCDS11912.1	18																																																																																			ZNF24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172466		0.423	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1		0.00	33	0	C	NM_006965		32917454	-1			no_errors	ENST00000261332	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.683	T
ZNF264	9422	genome.wustl.edu	37	19	57722979	57722979	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57722979G>A	ENST00000263095.6	+	4	928	c.514G>A	c.(514-516)Gga>Aga	p.G172R	ZNF264_ENST00000536056.1_Missense_Mutation_p.G172R	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCAAGGATTGGACAGGAGCA	0.463																																																	0													106.0	97.0	100.0					19																	57722979		2203	4300	6503	SO:0001583	missense	0			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.514G>A	19.37:g.57722979G>A	ENSP00000263095:p.Gly172Arg		A8K8Y9|Q9P1V0	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.G172R	ENST00000263095.6	37	c.514	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551553	0.03996	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.21734	1.99;1.99	2.35	-3.65	0.04502	.	.	.	.	.	T	0.06050	0.0157	N	0.03050	-0.425	0.09310	N	1	B	0.21309	0.054	B	0.17098	0.017	T	0.40627	-0.9553	9	0.10377	T	0.69	.	5.0034	0.14275	0.4967:0.3033:0.1999:0.0	.	172	O43296	ZN264_HUMAN	R	172	ENSP00000263095:G172R;ENSP00000440376:G172R	ENSP00000263095:G172R	G	+	1	0	ZNF264	62414791	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.426000	0.07008	-0.689000	0.05149	-0.378000	0.06908	GGA	ZNF264	-	NULL	ENSG00000083844		0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	-	0.00	51	0	G			57722979	+1	tier1	-	no_errors	ENST00000263095	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.000	A
ZNF469	84627	genome.wustl.edu	37	16	88504575	88504575	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:88504575G>C	ENST00000437464.1	+	2	10613	c.10613G>C	c.(10612-10614)aGa>aCa	p.R3538T	ZNF469_ENST00000565624.1_Missense_Mutation_p.R3566T	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GCTGATGGCAGAGGAGACTGC	0.667																																																	0													35.0	40.0	38.0					16																	88504575		692	1590	2282	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.10613G>C	16.37:g.88504575G>C	ENSP00000402343:p.Arg3538Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R3538T	ENST00000437464.1	37	c.10613	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903102	0.17760	.	.	ENSG00000225614	ENST00000437464	T	0.05319	3.46	4.6	-0.641	0.11490	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.48896	-0.8994	9	0.13853	T	0.58	0.956	6.0869	0.19973	0.3968:0.4757:0.1275:0.0	.	3538	Q96JG9	ZN469_HUMAN	T	3538	ENSP00000402343:R3538T	ENSP00000402343:R3538T	R	+	2	0	ZNF469	87032076	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.516000	0.22817	-0.396000	0.07703	-0.291000	0.09656	AGA	ZNF469	-	NULL	ENSG00000225614		0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	48	0	G	NG_012236		88504575	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.000	C
ZNF469	84627	genome.wustl.edu	37	16	88504575	88504575	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr16:88504575G>C	ENST00000437464.1	+	2	10613	c.10613G>C	c.(10612-10614)aGa>aCa	p.R3538T	ZNF469_ENST00000565624.1_Missense_Mutation_p.R3566T	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GCTGATGGCAGAGGAGACTGC	0.667																																																	0													35.0	40.0	38.0					16																	88504575		692	1590	2282	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.10613G>C	16.37:g.88504575G>C	ENSP00000402343:p.Arg3538Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R3538T	ENST00000437464.1	37	c.10613	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903102	0.17760	.	.	ENSG00000225614	ENST00000437464	T	0.05319	3.46	4.6	-0.641	0.11490	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.48896	-0.8994	9	0.13853	T	0.58	0.956	6.0869	0.19973	0.3968:0.4757:0.1275:0.0	.	3538	Q96JG9	ZN469_HUMAN	T	3538	ENSP00000402343:R3538T	ENSP00000402343:R3538T	R	+	2	0	ZNF469	87032076	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.516000	0.22817	-0.396000	0.07703	-0.291000	0.09656	AGA	ZNF469	-	NULL	ENSG00000225614		0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	85	0	G	NG_012236		88504575	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.000	C
ZNF484	83744	genome.wustl.edu	37	9	95609810	95609810	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:95609810G>A	ENST00000375495.3	-	5	1407	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	ZNF484_ENST00000332591.6_Missense_Mutation_p.A384V|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.A422V|ZNF484_ENST00000395505.2_Missense_Mutation_p.A384V	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCGGATAAAGGCCTTCCCACA	0.358																																																	0													75.0	79.0	78.0					9																	95609810		2203	4300	6503	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1259C>T	9.37:g.95609810G>A	ENSP00000364645:p.Ala420Val		B1AL89|B4DRI2	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.A422V	ENST00000375495.3	37	c.1265	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759328	0.49468	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31040	0.0784	L	0.37466	1.105	0.22620	N	0.99892	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05699	-1.0869	9	0.40728	T	0.16	.	7.1793	0.25763	0.0:0.2804:0.7195:0.0	.	422;420	B4DRI2;Q5JVG2	.;ZN484_HUMAN	V	384;422;420;384	ENSP00000378881:A384V;ENSP00000378882:A422V;ENSP00000364645:A420V;ENSP00000364646:A384V	ENSP00000364646:A384V	A	-	2	0	ZNF484	94649631	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.132000	0.10467	1.653000	0.50694	0.545000	0.68477	GCC	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127081		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	-	0.00	55	0	G	XM_046861		95609810	-1	tier1	-	no_errors	ENST00000395506	ensembl	human	known	74_37	missense	9.46	66	7	SNP	1.000	A
ZNF484	83744	genome.wustl.edu	37	9	95609810	95609810	+	Missense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:95609810G>A	ENST00000375495.3	-	5	1407	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	ZNF484_ENST00000332591.6_Missense_Mutation_p.A384V|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.A422V|ZNF484_ENST00000395505.2_Missense_Mutation_p.A384V	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCGGATAAAGGCCTTCCCACA	0.358																																																	0													75.0	79.0	78.0					9																	95609810		2203	4300	6503	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1259C>T	9.37:g.95609810G>A	ENSP00000364645:p.Ala420Val		B1AL89|B4DRI2	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.A422V	ENST00000375495.3	37	c.1265	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759328	0.49468	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31040	0.0784	L	0.37466	1.105	0.22620	N	0.99892	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05699	-1.0869	9	0.40728	T	0.16	.	7.1793	0.25763	0.0:0.2804:0.7195:0.0	.	422;420	B4DRI2;Q5JVG2	.;ZN484_HUMAN	V	384;422;420;384	ENSP00000378881:A384V;ENSP00000378882:A422V;ENSP00000364645:A420V;ENSP00000364646:A384V	ENSP00000364646:A384V	A	-	2	0	ZNF484	94649631	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.132000	0.10467	1.653000	0.50694	0.545000	0.68477	GCC	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127081		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	-	0.00	74	0	G	XM_046861		95609810	-1	tier1	-	no_errors	ENST00000395506	ensembl	human	known	74_37	missense	9.46	66	7	SNP	1.000	A
ZNF483	158399	genome.wustl.edu	37	9	114304808	114304808	+	Silent	SNP	C	C	A	rs34985726		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:114304808C>A	ENST00000309235.5	+	6	1751	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTGGGAGACCCTTTAGTGACA	0.383																																																	0													55.0	60.0	58.0					9																	114304808		2202	4300	6502	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1593C>A	9.37:g.114304808C>A			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P531	ENST00000309235.5	37	c.1593	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.383	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	-	0.00	34	0	C	XM_088567		114304808	+1	tier1	-	no_errors	ENST00000309235	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.627	A
ZNF483	158399	genome.wustl.edu	37	9	114304808	114304808	+	Silent	SNP	C	C	A	rs34985726		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr9:114304808C>A	ENST00000309235.5	+	6	1751	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTGGGAGACCCTTTAGTGACA	0.383																																																	0													55.0	60.0	58.0					9																	114304808		2202	4300	6502	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1593C>A	9.37:g.114304808C>A			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P531	ENST00000309235.5	37	c.1593	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.383	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	-	0.00	47	0	C	XM_088567		114304808	+1	tier1	-	no_errors	ENST00000309235	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.627	A
ZNF548	147694	genome.wustl.edu	37	19	57911126	57911126	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57911126C>T	ENST00000366197.5	+	3	1721	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.H503Y|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGAAAGTCTCACCTGGTTCA	0.433																																																	0													90.0	90.0	90.0					19																	57911126		2035	4229	6264	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1471C>T	19.37:g.57911126C>T	ENSP00000379482:p.His491Tyr		Q96M05	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.H503Y	ENST00000366197.5	37	c.1507	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382300	0.61845	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.07444	3.19;3.19	3.07	-0.606	0.11619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	L	0.38175	1.15	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.53912	0.737;0.55	T	0.34675	-0.9819	9	0.19590	T	0.45	.	7.5283	0.27668	0.4499:0.4029:0.1472:0.0	.	503;491	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	503;491	ENSP00000337555:H503Y;ENSP00000379482:H491Y	ENSP00000337555:H503Y	H	+	1	0	ZNF548	62602938	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-4.141000	0.00287	-0.003000	0.14444	0.655000	0.94253	CAC	ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188785		0.433	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	-	0.00	64	0	C	NM_152909		57911126	+1	tier1	-	no_errors	ENST00000336128	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T
ZNF548	147694	genome.wustl.edu	37	19	57911126	57911126	+	Missense_Mutation	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57911126C>T	ENST00000366197.5	+	3	1721	c.1471C>T	c.(1471-1473)Cac>Tac	p.H491Y	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.H503Y|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGAAAGTCTCACCTGGTTCA	0.433																																																	0													90.0	90.0	90.0					19																	57911126		2035	4229	6264	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1471C>T	19.37:g.57911126C>T	ENSP00000379482:p.His491Tyr		Q96M05	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.H503Y	ENST00000366197.5	37	c.1507	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382300	0.61845	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.07444	3.19;3.19	3.07	-0.606	0.11619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	L	0.38175	1.15	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.53912	0.737;0.55	T	0.34675	-0.9819	9	0.19590	T	0.45	.	7.5283	0.27668	0.4499:0.4029:0.1472:0.0	.	503;491	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	503;491	ENSP00000337555:H503Y;ENSP00000379482:H491Y	ENSP00000337555:H503Y	H	+	1	0	ZNF548	62602938	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-4.141000	0.00287	-0.003000	0.14444	0.655000	0.94253	CAC	ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188785		0.433	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	-	0.00	67	0	C	NM_152909		57911126	+1	tier1	-	no_errors	ENST00000336128	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T
ZNF676	163223	genome.wustl.edu	37	19	22375873	22375873	+	Missense_Mutation	SNP	C	C	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:22375873C>A	ENST00000397121.2	-	2	392	c.75G>T	c.(73-75)gaG>gaT	p.E25D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	25	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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTTTCCTTGCTCCAGAAAAA	0.403																																																	0													96.0	117.0	109.0					19																	22375873		1511	2709	4220	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.75G>T	19.37:g.22375873C>A	ENSP00000380310:p.Glu25Asp		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E25D	ENST00000397121.2	37	c.75	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	15.95	2.982608	0.53827	.	.	ENSG00000196109	ENST00000397121	T	0.01113	5.32	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.04363	0.0120	M	0.90870	3.155	0.20926	N	0.999821	P	0.46578	0.88	P	0.50270	0.636	T	0.17745	-1.0359	9	0.87932	D	0	.	4.7436	0.13026	0.0:1.0:0.0:0.0	.	25	Q8N7Q3	ZN676_HUMAN	D	25	ENSP00000380310:E25D	ENSP00000380310:E25D	E	-	3	2	ZNF676	22167713	0.681000	0.27614	0.711000	0.30485	0.714000	0.41099	-0.173000	0.09854	0.181000	0.19994	0.184000	0.17185	GAG	ZNF676	-	superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	141	0	C	NM_001001411		22375873	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	15.87	159	30	SNP	0.923	A
ZNF71	58491	genome.wustl.edu	37	19	57134062	57134062	+	Silent	SNP	C	C	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:57134062C>T	ENST00000328070.6	+	3	1641	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCGATGCGGCGAGTGCGGGA	0.647																																																	0													56.0	53.0	54.0					19																	57134062		2203	4300	6503	SO:0001819	synonymous_variant	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1407C>T	19.37:g.57134062C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G469	ENST00000328070.6	37	c.1407	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197951		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	-	0.00	101	0	C	NM_021216		57134062	+1	tier1	-	no_errors	ENST00000328070	ensembl	human	known	74_37	silent	26.80	71	26	SNP	0.001	T
ZNF671	79891	genome.wustl.edu	37	19	58238833	58238833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:58238833G>A	ENST00000317398.6	-	1	159	c.64C>T	c.(64-66)Cga>Tga	p.R22*	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Nonsense_Mutation_p.R22*|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CGTCTCGATCGGGGACGCAGG	0.701																																																	0													35.0	36.0	36.0					19																	58238833		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.64C>T	19.37:g.58238833G>A	ENSP00000321848:p.Arg22*		A6NF07|Q9H5E9	Nonsense_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.R22*	ENST00000317398.6	37	c.64	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829349	0.71258	.	.	ENSG00000083814	ENST00000317398	.	.	.	1.45	-0.899	0.10547	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999885	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	2.7739	0.05342	0.2089:0.3047:0.4865:0.0	.	.	.	.	X	22	.	ENSP00000321848:R22X	R	-	1	2	ZNF671	62930645	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.807000	0.04520	-0.198000	0.10333	-0.463000	0.05309	CGA	ZNF671	-	NULL	ENSG00000083814		0.701	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0.00	115	0	G	NM_024833		58238833	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	nonsense	7.00	93	7	SNP	0.002	A
ZNF671	79891	genome.wustl.edu	37	19	58238833	58238833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:58238833G>A	ENST00000317398.6	-	1	159	c.64C>T	c.(64-66)Cga>Tga	p.R22*	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Nonsense_Mutation_p.R22*|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CGTCTCGATCGGGGACGCAGG	0.701																																																	0													35.0	36.0	36.0					19																	58238833		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.64C>T	19.37:g.58238833G>A	ENSP00000321848:p.Arg22*		A6NF07|Q9H5E9	Nonsense_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.R22*	ENST00000317398.6	37	c.64	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829349	0.71258	.	.	ENSG00000083814	ENST00000317398	.	.	.	1.45	-0.899	0.10547	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999885	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	2.7739	0.05342	0.2089:0.3047:0.4865:0.0	.	.	.	.	X	22	.	ENSP00000321848:R22X	R	-	1	2	ZNF671	62930645	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.807000	0.04520	-0.198000	0.10333	-0.463000	0.05309	CGA	ZNF671	-	NULL	ENSG00000083814		0.701	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0.00	149	0	G	NM_024833		58238833	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	nonsense	7.00	93	7	SNP	0.002	A
ZNF727	442319	genome.wustl.edu	37	7	63538841	63538841	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:63538841A>G	ENST00000550760.3	+	4	1593	c.1414A>G	c.(1414-1416)Aga>Gga	p.R472G	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAAACACAAGAGAAGTCATAC	0.408																																																	0													54.0	50.0	51.0					7																	63538841		692	1591	2283	SO:0001583	missense	0					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1414A>G	7.37:g.63538841A>G	ENSP00000447987:p.Arg472Gly			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.R472G	ENST00000550760.3	37	c.1414	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	A	8.691	0.907341	0.17833	.	.	ENSG00000257482	ENST00000550760	T	0.09911	2.93	0.926	0.926	0.19430	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.23320	N	0.997916	D	0.61080	0.989	P	0.61275	0.886	T	0.22347	-1.0219	8	.	.	.	.	5.7712	0.18253	1.0:0.0:0.0:0.0	.	472	A8MUV8	ZN727_HUMAN	G	472	ENSP00000447987:R472G	.	R	+	1	2	ZNF727	63176276	0.000000	0.05858	0.030000	0.17652	0.026000	0.11368	-0.681000	0.05191	0.355000	0.24131	0.344000	0.21773	AGA	ZNF727	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257482		0.408	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		-	0.00	63	0	A	NM_001159522		63538841	+1	tier1	-	no_errors	ENST00000550760	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	G
ZNF791	163049	genome.wustl.edu	37	19	12739050	12739050	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:12739050G>C	ENST00000343325.4	+	4	869	c.707G>C	c.(706-708)aGa>aCa	p.R236T	ZNF791_ENST00000458122.3_Missense_Mutation_p.R204T|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R127T|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTACACGAAAGAACTCACACT	0.423																																																	0													59.0	56.0	57.0					19																	12739050		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.707G>C	19.37:g.12739050G>C	ENSP00000342974:p.Arg236Thr		B7Z586|Q8NC99	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.R236T	ENST00000343325.4	37	c.707	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902618	0.52227	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.25414	1.8;1.8;1.8	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43144	0.1234	M	0.71920	2.185	0.30692	N	0.751256	D	0.89917	1.0	D	0.97110	1.0	T	0.40346	-0.9568	9	0.59425	D	0.04	.	4.3047	0.10940	0.2129:0.0:0.7871:0.0	.	236	Q3KP31	ZN791_HUMAN	T	236;218;204;127	ENSP00000342974:R236T;ENSP00000441761:R204T;ENSP00000441038:R127T	ENSP00000342974:R236T	R	+	2	0	ZNF791	12600050	0.199000	0.23386	0.952000	0.39060	0.782000	0.44232	2.946000	0.49050	1.007000	0.39238	0.491000	0.48974	AGA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0.00	76	0	G	NM_153358		12739050	+1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	10.53	68	8	SNP	0.948	C
ZNF791	163049	genome.wustl.edu	37	19	12739050	12739050	+	Missense_Mutation	SNP	G	G	C			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:12739050G>C	ENST00000343325.4	+	4	869	c.707G>C	c.(706-708)aGa>aCa	p.R236T	ZNF791_ENST00000458122.3_Missense_Mutation_p.R204T|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R127T|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTACACGAAAGAACTCACACT	0.423																																																	0													59.0	56.0	57.0					19																	12739050		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.707G>C	19.37:g.12739050G>C	ENSP00000342974:p.Arg236Thr		B7Z586|Q8NC99	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.R236T	ENST00000343325.4	37	c.707	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902618	0.52227	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.25414	1.8;1.8;1.8	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43144	0.1234	M	0.71920	2.185	0.30692	N	0.751256	D	0.89917	1.0	D	0.97110	1.0	T	0.40346	-0.9568	9	0.59425	D	0.04	.	4.3047	0.10940	0.2129:0.0:0.7871:0.0	.	236	Q3KP31	ZN791_HUMAN	T	236;218;204;127	ENSP00000342974:R236T;ENSP00000441761:R204T;ENSP00000441038:R127T	ENSP00000342974:R236T	R	+	2	0	ZNF791	12600050	0.199000	0.23386	0.952000	0.39060	0.782000	0.44232	2.946000	0.49050	1.007000	0.39238	0.491000	0.48974	AGA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0.00	77	0	G	NM_153358		12739050	+1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	10.53	68	8	SNP	0.948	C
ZNF729	100287226	genome.wustl.edu	37	19	22497093	22497093	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:22497093T>A	ENST00000601693.1	+	4	992	c.874T>A	c.(874-876)Tac>Aac	p.Y292N	ZNF729_ENST00000357491.6_Missense_Mutation_p.Y292N			A6NN14	ZN729_HUMAN	zinc finger protein 729	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						AGAGAAAACCTACAAATGTGA	0.378																																																	0																																										SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.874T>A	19.37:g.22497093T>A	ENSP00000469582:p.Tyr292Asn		M0QY45	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.Y292N	ENST00000601693.1	37	c.874	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	10.23	1.294052	0.23564	.	.	ENSG00000196350	ENST00000357491	T	0.25749	1.78	1.28	1.28	0.21552	.	.	.	.	.	T	0.46151	0.1378	M	0.90483	3.12	.	.	.	.	.	.	.	.	.	T	0.58719	-0.7587	6	0.59425	D	0.04	.	7.4272	0.27107	0.0:0.0:0.0:1.0	.	.	.	.	N	292	ENSP00000350085:Y292N	ENSP00000350085:Y292N	Y	+	1	0	ZNF729	22288933	0.001000	0.12720	0.006000	0.13384	0.111000	0.19643	1.099000	0.31013	0.548000	0.28955	0.402000	0.26972	TAC	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.378	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	-	0.00	59	0	T	XM_496301		22497093	+1	tier1	-	no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	18.18	63	14	SNP	0.620	A
ZNF729	100287226	genome.wustl.edu	37	19	22497093	22497093	+	Missense_Mutation	SNP	T	T	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:22497093T>A	ENST00000601693.1	+	4	992	c.874T>A	c.(874-876)Tac>Aac	p.Y292N	ZNF729_ENST00000357491.6_Missense_Mutation_p.Y292N			A6NN14	ZN729_HUMAN	zinc finger protein 729	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						AGAGAAAACCTACAAATGTGA	0.378																																																	0																																										SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.874T>A	19.37:g.22497093T>A	ENSP00000469582:p.Tyr292Asn		M0QY45	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.Y292N	ENST00000601693.1	37	c.874	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	10.23	1.294052	0.23564	.	.	ENSG00000196350	ENST00000357491	T	0.25749	1.78	1.28	1.28	0.21552	.	.	.	.	.	T	0.46151	0.1378	M	0.90483	3.12	.	.	.	.	.	.	.	.	.	T	0.58719	-0.7587	6	0.59425	D	0.04	.	7.4272	0.27107	0.0:0.0:0.0:1.0	.	.	.	.	N	292	ENSP00000350085:Y292N	ENSP00000350085:Y292N	Y	+	1	0	ZNF729	22288933	0.001000	0.12720	0.006000	0.13384	0.111000	0.19643	1.099000	0.31013	0.548000	0.28955	0.402000	0.26972	TAC	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.378	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	-	0.00	66	0	T	XM_496301		22497093	+1	tier1	-	no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	18.18	63	14	SNP	0.620	A
ZNF804B	219578	genome.wustl.edu	37	7	88962746	88962746	+	Missense_Mutation	SNP	T	T	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:88962746T>G	ENST00000333190.4	+	4	1059	c.450T>G	c.(448-450)atT>atG	p.I150M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	150							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCAAGGAATTTTCCCCATTA	0.393										HNSCC(36;0.09)																																							0													51.0	52.0	52.0					7																	88962746		2203	4299	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.450T>G	7.37:g.88962746T>G	ENSP00000329638:p.Ile150Met		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.I150M	ENST00000333190.4	37	c.450	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198768	0.38806	.	.	ENSG00000182348	ENST00000333190	T	0.05996	3.36	5.27	0.114	0.14639	.	0.415614	0.23091	N	0.052038	T	0.03827	0.0108	L	0.36672	1.1	0.28092	N	0.931754	B	0.34372	0.451	B	0.28139	0.086	T	0.32375	-0.9909	10	0.62326	D	0.03	-6.4821	1.959	0.03382	0.1186:0.1954:0.1231:0.5629	.	150	A4D1E1	Z804B_HUMAN	M	150	ENSP00000329638:I150M	ENSP00000329638:I150M	I	+	3	3	ZNF804B	88800682	0.998000	0.40836	1.000000	0.80357	0.815000	0.46073	0.323000	0.19593	0.124000	0.18369	-0.472000	0.04984	ATT	ZNF804B	-	NULL	ENSG00000182348		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	57	0	T	NM_181646		88962746	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.991	G
ZNF804B	219578	genome.wustl.edu	37	7	88963101	88963101	+	Missense_Mutation	SNP	G	G	T			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr7:88963101G>T	ENST00000333190.4	+	4	1414	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269							metal ion binding (GO:0046872)	p.A269S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGGTTTGCAAATAAAGA	0.358										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	lung(1)											72.0	67.0	68.0					7																	88963101		2202	4300	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.805G>T	7.37:g.88963101G>T	ENSP00000329638:p.Ala269Ser		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.A269S	ENST00000333190.4	37	c.805	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374843	0.11409	.	.	ENSG00000182348	ENST00000333190	T	0.04603	3.59	5.04	4.09	0.47781	.	0.243501	0.29293	N	0.012580	T	0.03871	0.0109	L	0.46157	1.445	0.29131	N	0.87965	P	0.47350	0.894	B	0.39935	0.314	T	0.23619	-1.0183	10	0.18276	T	0.48	-18.4188	3.2072	0.06670	0.0887:0.1265:0.4597:0.3251	.	269	A4D1E1	Z804B_HUMAN	S	269	ENSP00000329638:A269S	ENSP00000329638:A269S	A	+	1	0	ZNF804B	88801037	0.574000	0.26684	0.994000	0.49952	0.837000	0.47467	0.444000	0.21661	2.630000	0.89119	0.655000	0.94253	GCA	ZNF804B	-	NULL	ENSG00000182348		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0.00	21	0	G	NM_181646		88963101	+1			no_errors	ENST00000333190	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.908	T
ZNF90	7643	genome.wustl.edu	37	19	20236360	20236361	+	3'UTR	INS	-	-	A			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:20236360_20236361insA	ENST00000474284.1	+	0	784_785				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000590606.1_RNA			Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAGTTTCCAGGAAAAAAAAAGT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000474284.1:c.*782->A	19.37:g.20236369_20236369dupA			B9EH87	RNA	INS	-	NULL	ENST00000474284.1	37	NULL		19																																																																																			ZNF90	-	-	ENSG00000213988		0.371	ZNF90-003	KNOWN	basic	processed_transcript	ZNF90	HGNC	protein_coding	OTTHUMT00000350103.2		0.00	24	0	-	NM_007138		20236361	+1	tier1		no_errors	ENST00000474284	ensembl	human	known	74_37	rna	13.04	20	3	INS	0.702:0.863	A
ZNF813	126017	genome.wustl.edu	37	19	53994532	53994532	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:53994532A>G	ENST00000396403.4	+	4	1174	c.1046A>G	c.(1045-1047)cAt>cGt	p.H349R	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CGTAGACTTCATACTGGAGAG	0.428																																																	0													151.0	154.0	153.0					19																	53994532		2203	4299	6502	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1046A>G	19.37:g.53994532A>G	ENSP00000379684:p.His349Arg			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.H349R	ENST00000396403.4	37	c.1046	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	a	14.04	2.418193	0.42918	.	.	ENSG00000198346	ENST00000396403	T	0.67523	-0.27	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82332	0.5014	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80908	-0.1172	9	0.87932	D	0	.	7.1931	0.25837	1.0:0.0:0.0:0.0	.	349	Q6ZN06	ZN813_HUMAN	R	349	ENSP00000379684:H349R	ENSP00000379684:H349R	H	+	2	0	ZNF813	58686344	1.000000	0.71417	0.819000	0.32651	0.580000	0.36256	6.927000	0.75840	0.383000	0.24910	0.156000	0.16432	CAT	ZNF813	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.428	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0.00	145	0	A	NM_001004301		53994532	+1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	16.11	125	24	SNP	1.000	G
ZNF813	126017	genome.wustl.edu	37	19	53994532	53994532	+	Missense_Mutation	SNP	A	A	G			TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:53994532A>G	ENST00000396403.4	+	4	1174	c.1046A>G	c.(1045-1047)cAt>cGt	p.H349R	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CGTAGACTTCATACTGGAGAG	0.428																																																	0													151.0	154.0	153.0					19																	53994532		2203	4299	6502	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1046A>G	19.37:g.53994532A>G	ENSP00000379684:p.His349Arg			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.H349R	ENST00000396403.4	37	c.1046	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	a	14.04	2.418193	0.42918	.	.	ENSG00000198346	ENST00000396403	T	0.67523	-0.27	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82332	0.5014	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80908	-0.1172	9	0.87932	D	0	.	7.1931	0.25837	1.0:0.0:0.0:0.0	.	349	Q6ZN06	ZN813_HUMAN	R	349	ENSP00000379684:H349R	ENSP00000379684:H349R	H	+	2	0	ZNF813	58686344	1.000000	0.71417	0.819000	0.32651	0.580000	0.36256	6.927000	0.75840	0.383000	0.24910	0.156000	0.16432	CAT	ZNF813	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.428	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0.00	155	0	A	NM_001004301		53994532	+1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	16.11	125	24	SNP	1.000	G
ZSCAN1	284312	genome.wustl.edu	37	19	58564838	58564838	+	Missense_Mutation	SNP	G	G	A	rs374458811		TCGA-V5-AASX-01A-11D-A387-09	TCGA-V5-AASX-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	278a8482-4a24-43e1-8159-cbe9868a0057	bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd	g.chr19:58564838G>A	ENST00000282326.1	+	6	893	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	216					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TATCTGGGACGAGCCTGAGGA	0.637																																																	0								G	LYS/GLU	0,4406		0,0,2203	51.0	54.0	53.0		646	-1.5	0.0	19		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZSCAN1	NM_182572.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	216/409	58564838	2,13004	2203	4300	6503	SO:0001583	missense	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.646G>A	19.37:g.58564838G>A	ENSP00000282326:p.Glu216Lys		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E216K	ENST00000282326.1	37	c.646	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140812	0.09083	0.0	2.33E-4	ENSG00000152467	ENST00000282326	T	0.04234	3.67	1.04	-1.45	0.08828	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.09310	N	1	B	0.33755	0.424	B	0.28139	0.086	T	0.48198	-0.9056	9	0.15066	T	0.55	.	5.6584	0.17654	0.3885:0.0:0.6115:0.0	.	216	Q8NBB4	ZSCA1_HUMAN	K	216	ENSP00000282326:E216K	ENSP00000282326:E216K	E	+	1	0	ZSCAN1	63256650	0.008000	0.16893	0.001000	0.08648	0.060000	0.15804	0.247000	0.18179	-0.545000	0.06224	-0.339000	0.08088	GAG	ZSCAN1	-	NULL	ENSG00000152467		0.637	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	70	0	G	NM_182572		58564838	+1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	14.10	67	11	SNP	0.022	A
