#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
AACS	65985	genome.wustl.edu	37	12	125591812	125591812	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125591812G>T	ENST00000316519.6	+	8	1119	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	AACS_ENST00000261686.6_Missense_Mutation_p.G305W|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	305					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCATTCCGCTGGGGTAGGTCT	0.597																																																	0													60.0	55.0	57.0					12																	125591812		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.913G>T	12.37:g.125591812G>T	ENSP00000324842:p.Gly305Trp		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.G305W	ENST00000316519.6	37	c.913	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260643	0.80246	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T	0.54479	2.64;2.64;0.57	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87975	0.2739	10	0.87932	D	0	.	18.8781	0.92346	0.0:0.0:1.0:0.0	.	305;305	Q86V21-2;Q86V21	.;AACS_HUMAN	W	305;305;161;86;124	ENSP00000324842:G305W;ENSP00000261686:G305W;ENSP00000392967:G124W	ENSP00000261686:G305W	G	+	1	0	AACS	124157765	1.000000	0.71417	0.954000	0.39281	0.538000	0.34931	8.899000	0.92544	2.542000	0.85734	0.561000	0.74099	GGG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1		0.00	41	0	G	NM_023928		125591812	+1			no_errors	ENST00000316519	ensembl	human	known	74_37	missense	6.06	30	2	SNP	1.000	T
ABCA12	26154	genome.wustl.edu	37	2	215818665	215818665	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:215818665C>T	ENST00000272895.7	-	44	6779	c.6560G>A	c.(6559-6561)gGt>gAt	p.G2187D	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1869D|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2187					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)		AAACATTGCACCTAGTTTATT	0.378																																					Ovarian(66;664 1488 5121 34295)												0													110.0	101.0	104.0					2																	215818665		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.6560G>A	2.37:g.215818665C>T	ENSP00000272895:p.Gly2187Asp		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G2187D	ENST00000272895.7	37	c.6560	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344141	0.82022	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.91894	-2.93;-2.9	5.66	5.66	0.87406	.	0.167110	0.42821	D	0.000648	D	0.96473	0.8849	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.78314	0.928;0.991	D	0.96707	0.9522	10	0.87932	D	0	.	16.5996	0.84810	0.0:0.8615:0.1385:0.0	.	2187;1869	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2187;1869	ENSP00000272895:G2187D;ENSP00000374312:G1869D	ENSP00000272895:G2187D	G	-	2	0	ABCA12	215526910	1.000000	0.71417	0.964000	0.40570	0.937000	0.57800	5.585000	0.67497	2.831000	0.97527	0.650000	0.86243	GGT	ABCA12	-	NULL	ENSG00000144452		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	86	0	C	NM_173076		215818665	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	T
AAMP	14	genome.wustl.edu	37	2	219131642	219131642	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:219131642C>T	ENST00000248450.4	-	4	632	c.462G>A	c.(460-462)atG>atA	p.M154I	AAMP_ENST00000444053.1_Missense_Mutation_p.M155I|AAMP_ENST00000420660.1_Missense_Mutation_p.M135I			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	154					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGGCCACTCATGTCCCCTG	0.522																																																	0													76.0	80.0	78.0					2																	219131642		2203	4300	6503	SO:0001583	missense	0			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.462G>A	2.37:g.219131642C>T	ENSP00000248450:p.Met154Ile		Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M154I	ENST00000248450.4	37	c.462	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932318	0.92389	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.23	5.23	0.72850	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	0.66616	0.2807	L	0.33792	1.035	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.989	D;P;P	0.81914	0.995;0.823;0.908	T	0.61525	-0.7045	10	0.22706	T	0.39	-24.7511	18.8213	0.92099	0.0:1.0:0.0:0.0	.	155;154;135	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	I	154;155;135;108	ENSP00000248450:M154I;ENSP00000403343:M155I;ENSP00000416394:M135I;ENSP00000393818:M108I	ENSP00000248450:M154I	M	-	3	0	AAMP	218839886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.788000	0.85771	2.421000	0.82119	0.655000	0.94253	ATG	AAMP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127837		0.522	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	-	0.00	77	0	C	NM_001087		219131642	-1	tier1	-	no_errors	ENST00000248450	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48125057	48125057	+	Missense_Mutation	SNP	C	C	T	rs367887492		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:48125057C>T	ENST00000311303.3	-	23	3604	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1087						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCAGCTCCACGGAGGTGAAT	0.502																																																	0													164.0	157.0	160.0					16																	48125057		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3259G>A	16.37:g.48125057C>T	ENSP00000311030:p.Val1087Met		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1087M	ENST00000311303.3	37	c.3259	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016013	0.54468	.	.	ENSG00000140798	ENST00000311303	D	0.92048	-2.96	5.74	4.78	0.61160	ABC transporter, transmembrane domain, type 1 (1);	0.127721	0.52532	D	0.000076	D	0.94791	0.8318	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.94901	0.8056	10	0.87932	D	0	.	11.7282	0.51722	0.0:0.9174:0.0:0.0826	.	1087	Q96J65	MRP9_HUMAN	M	1087	ENSP00000311030:V1087M	ENSP00000311030:V1087M	V	-	1	0	ABCC12	46682558	0.985000	0.35326	0.811000	0.32455	0.126000	0.20510	2.710000	0.47169	1.419000	0.47118	0.563000	0.77884	GTG	ABCC12	-	superfamily_ABC1_TM_dom	ENSG00000140798		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0.00	51	0	C	NM_033226		48125057	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T
ACVR1C	130399	genome.wustl.edu	37	2	158397600	158397600	+	Splice_Site	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:158397600A>G	ENST00000243349.8	-	7	1586		c.e7+1		ACVR1C_ENST00000348328.5_Splice_Site|ACVR1C_ENST00000335450.7_Splice_Site|ACVR1C_ENST00000409680.3_Splice_Site	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCAAAATTTTACCTCCGACTG	0.373																																																	0													109.0	111.0	110.0					2																	158397600		2203	4300	6503	SO:0001630	splice_region_variant	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1225+1T>C	2.37:g.158397600A>G				Splice_Site	SNP	-	e7+2	ENST00000243349.8	37	c.1225+2	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678632	0.68042	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1956	0.73084	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACVR1C	158105846	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	9.287000	0.95975	2.125000	0.65367	0.482000	0.46254	.	ACVR1C	-	-	ENSG00000123612		0.373	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	-	0.00	144	0	A	NM_145259	Intron	158397600	-1	tier1	-	no_errors	ENST00000243349	ensembl	human	known	74_37	splice_site	16.06	115	22	SNP	1.000	G
AFF2	2334	genome.wustl.edu	37	X	148044441	148044441	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:148044441G>T	ENST00000370460.2	+	13	3366	c.2887G>T	c.(2887-2889)Gct>Tct	p.A963S	AFF2_ENST00000342251.3_Missense_Mutation_p.A930S|AFF2_ENST00000370457.5_Missense_Mutation_p.A930S|AFF2_ENST00000286437.5_Missense_Mutation_p.A604S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	963					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATTCTGTGCTACTTTCAA	0.378																																																	0													97.0	84.0	88.0					X																	148044441		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2887G>T	X.37:g.148044441G>T	ENSP00000359489:p.Ala963Ser		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A963S	ENST00000370460.2	37	c.2887	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565255	0.27915	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.35	2.35	0.29111	.	0.835164	0.10748	N	0.638630	T	0.37237	0.0996	N	0.04090	-0.28	0.29352	N	0.865263	B;B;B;B;B;B	0.20550	0.046;0.037;0.037;0.037;0.037;0.046	B;B;B;B;B;B	0.22152	0.038;0.015;0.015;0.015;0.015;0.026	T	0.24657	-1.0154	10	0.11794	T	0.64	.	11.0225	0.47726	0.0:0.0:0.3868:0.6132	.	604;928;930;924;953;963	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	S	963;930;930;604	ENSP00000359489:A963S;ENSP00000359486:A930S;ENSP00000345459:A930S;ENSP00000286437:A604S	ENSP00000286437:A604S	A	+	1	0	AFF2	147852137	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.487000	0.35540	0.671000	0.31185	-0.237000	0.12165	GCT	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2		0.00	28	0	G	NM_002025		148044441	+1			no_errors	ENST00000370460	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
AK3	50808	genome.wustl.edu	37	9	4741041	4741041	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:4741041G>A	ENST00000381809.3	-	1	277	c.47C>T	c.(46-48)cCg>cTg	p.P16L	AK3_ENST00000447596.4_Missense_Mutation_p.P16L|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	14					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GCCCGAGCCCGGGGCCCCCAT	0.716																																																	0													18.0	17.0	17.0					9																	4741041		2190	4285	6475	SO:0001583	missense	0			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.47C>T	9.37:g.4741041G>A	ENSP00000371230:p.Pro16Leu		B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.P16L	ENST00000381809.3	37	c.47	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.430784	0.96150	.	.	ENSG00000147853	ENST00000381809;ENST00000447596	D;D	0.90197	-2.63;-2.63	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99204	1.0874	10	0.87932	D	0	-14.8536	16.9985	0.86375	0.0:0.0:1.0:0.0	.	16;16	E7ET30;Q9UIJ7	.;KAD3_HUMAN	L	16	ENSP00000371230:P16L;ENSP00000413933:P16L	ENSP00000371230:P16L	P	-	2	0	AK3	4731041	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	7.617000	0.83032	2.323000	0.78572	0.462000	0.41574	CCG	AK3	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000147853		0.716	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1		0.00	62	0	G	NM_016282		4741041	-1			no_errors	ENST00000381809	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A
AKAP9	10142	genome.wustl.edu	37	7	91714250	91714250	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:91714250T>A	ENST00000359028.2	+	35	9065	c.8840T>A	c.(8839-8841)aTa>aAa	p.I2947K	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.I2943K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2947					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAAAGAAAATAAAGGTACTA	0.373			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													79.0	81.0	80.0					7																	91714250		2203	4300	6503	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8840T>A	7.37:g.91714250T>A	ENSP00000351922:p.Ile2947Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.I2947K	ENST00000359028.2	37	c.8840		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.07|18.07	3.541249|3.541249	0.65085|0.65085	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T|.	0.05580|.	3.51;3.5;3.42|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.45606|.	D|.	0.000357|.	T|.	0.75481|.	0.3855|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.999;0.999|.	T|.	0.77043|.	-0.2734|.	10|.	0.87932|.	D|.	0|.	.|.	15.2647|15.2647	0.73651|0.73651	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2947;2947;2947;2943;2935|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	K|K	2943;2947;2947;789|88	ENSP00000348573:I2943K;ENSP00000351922:I2947K;ENSP00000378042:I789K|.	ENSP00000348573:I2943K|.	I|X	+|+	2|1	0|0	AKAP9|AKAP9	91552186|91552186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.209000|5.209000	0.65208|0.65208	2.077000|2.077000	0.62373|0.62373	0.533000|0.533000	0.62120|0.62120	ATA|TAA	AKAP9	-	NULL	ENSG00000127914		0.373	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0.00	29	0	T	NM_005751		91714250	+1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	36.89	65	38	SNP	1.000	A
ALPK2	115701	genome.wustl.edu	37	18	56202529	56202529	+	Silent	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr18:56202529A>G	ENST00000361673.3	-	5	5103	c.4890T>C	c.(4888-4890)ccT>ccC	p.P1630P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1630						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTCTATTTTAGGTTCCTCCA	0.443																																																	0													56.0	59.0	58.0					18																	56202529		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4890T>C	18.37:g.56202529A>G			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.P1630	ENST00000361673.3	37	c.4890	CCDS11966.2	18																																																																																			ALPK2	-	NULL	ENSG00000198796		0.443	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0.00	111	0	A	NM_052947		56202529	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	silent	8.26	100	9	SNP	0.004	G
ALPK3	57538	genome.wustl.edu	37	15	85400870	85400870	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:85400870G>T	ENST00000258888.5	+	6	3674	c.3507G>T	c.(3505-3507)ctG>ctT	p.L1169L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1169	Poly-Leu.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTTCTGCTGCTGAAGCTGT	0.647																																																	0													43.0	49.0	47.0					15																	85400870		2203	4299	6502	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3507G>T	15.37:g.85400870G>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L1169	ENST00000258888.5	37	c.3507	CCDS10333.1	15																																																																																			ALPK3	-	NULL	ENSG00000136383		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	47	0	G	NM_020778		85400870	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.934	T
ANK3	288	genome.wustl.edu	37	10	61834168	61834168	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:61834168G>T	ENST00000280772.2	-	37	6662	c.6471C>A	c.(6469-6471)ccC>ccA	p.P2157P	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2157					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I2158fs*64(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGGAGGGATGGGAACTTCAT	0.483																																																	1	Deletion - Frameshift(1)	lung(1)											141.0	133.0	136.0					10																	61834168		2203	4300	6503	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6471C>A	10.37:g.61834168G>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P2157	ENST00000280772.2	37	c.6471	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	38	0	G	NM_020987		61834168	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61905767	61905767	+	Intron	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:61905767G>T	ENST00000280772.2	-	24	2806				ANK3_ENST00000503366.1_Missense_Mutation_p.T859K|ANK3_ENST00000460468.1_Missense_Mutation_p.T22K|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTGTACCATGTGCATCTATT	0.343																																																	0																																										SO:0001627	intron_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2615-6922C>A	10.37:g.61905767G>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T859K	ENST00000280772.2	37	c.2576	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542017	0.65198	.	.	ENSG00000151150	ENST00000503366;ENST00000395299;ENST00000460468;ENST00000474360	T;T;T	0.15834	2.39;2.39;2.39	4.43	4.43	0.53597	.	.	.	.	.	T	0.08447	0.0210	N	0.03608	-0.345	0.22873	N	0.998629	B	0.13594	0.008	B	0.06405	0.002	T	0.19386	-1.0307	9	0.26408	T	0.33	.	12.8493	0.57848	0.0:0.0:1.0:0.0	.	859	E9PE32	.	K	859;838;22;50	ENSP00000425236:T859K;ENSP00000426690:T22K;ENSP00000422657:T50K	ENSP00000378711:T838K	T	-	2	0	ANK3	61575773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.410000	0.44592	2.738000	0.93877	0.655000	0.94253	ACA	ANK3	-	NULL	ENSG00000151150		0.343	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	106	0	G	NM_020987		61905767	-1	tier1	-	no_errors	ENST00000503366	ensembl	human	putative	74_37	missense	11.61	98	13	SNP	1.000	T
ANKRD11	29123	genome.wustl.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																																	0																																										SO:0001589	frameshift_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1103fs	ENST00000301030.4	37	c.3310_3309	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3		0.00	26	0	-	NM_013275		89349641	-1	tier1		no_errors	ENST00000301030	ensembl	human	known	74_37	frame_shift_ins	7.14	26	2	INS	1.000:1.000	T
ASPM	259266	genome.wustl.edu	37	1	197097636	197097636	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:197097636A>C	ENST00000367409.4	-	10	3176	c.2920T>G	c.(2920-2922)Tgt>Ggt	p.C974G	ASPM_ENST00000367408.1_Missense_Mutation_p.C224G|ASPM_ENST00000294732.7_Missense_Mutation_p.C974G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	974	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGCACTCCACATTGCAAGTCT	0.353																																																	0													117.0	113.0	115.0					1																	197097636		2203	4300	6503	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2920T>G	1.37:g.197097636A>C	ENSP00000356379:p.Cys974Gly		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.C974G	ENST00000367409.4	37	c.2920	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421217	0.83559	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59083	0.29;0.29;0.29	5.77	5.77	0.91146	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.69621	-0.5096	10	0.02654	T	1	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	974;974	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	G	974;974;224	ENSP00000356379:C974G;ENSP00000294732:C974G;ENSP00000356378:C224G	ENSP00000294732:C974G	C	-	1	0	ASPM	195364259	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	8.807000	0.91935	2.326000	0.78906	0.533000	0.62120	TGT	ASPM	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000066279		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0.00	112	0	A	NM_018136		197097636	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	7.86	129	11	SNP	1.000	C
GRIK1	2897	genome.wustl.edu	37	21	31002955	31002955	+	Intron	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr21:31002955C>T	ENST00000399907.1	-	7	1510				GRIK1-AS2_ENST00000333765.4_3'UTR|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000472429.1_Intron|BACH1_ENST00000462262.1_3'UTR|GRIK1_ENST00000309434.7_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000399914.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						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)	actgcagcagccccagccaac	0.448																																																	0																																										SO:0001627	intron_variant	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.1098+12190G>A	21.37:g.31002955C>T			Q13001|Q86SU9	RNA	SNP	-	NULL	ENST00000399907.1	37	NULL	CCDS42913.1	21																																																																																			BACH1	-	-	ENSG00000156273		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171979.1		0.00	18	0	C			31002955	+1			no_errors	ENST00000462262	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.001	T
BLZF1	8548	genome.wustl.edu	37	1	169349810	169349810	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:169349810C>T	ENST00000367808.3	+	5	1183	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	BLZF1_ENST00000329281.2_Missense_Mutation_p.R254W			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	254					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CCTAAGTGAACGGGAACAGTT	0.418																																																	0													151.0	122.0	132.0					1																	169349810		2203	4300	6503	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.760C>T	1.37:g.169349810C>T	ENSP00000356782:p.Arg254Trp		O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	pfam_Hsk3_like	p.R254W	ENST00000367808.3	37	c.760	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527801	0.85706	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.40225	1.04;1.04	5.52	4.6	0.57074	.	0.109437	0.64402	D	0.000012	T	0.52500	0.1738	M	0.65498	2.005	0.47698	D	0.999492	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62144	-0.6916	9	0.87932	D	0	-1.8163	13.6034	0.62033	0.2812:0.7188:0.0:0.0	.	254;254	A8K6R0;Q9H2G9	.;GO45_HUMAN	W	254	ENSP00000356782:R254W;ENSP00000327541:R254W	ENSP00000327541:R254W	R	+	1	2	BLZF1	167616434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.235000	0.43044	1.295000	0.44724	0.637000	0.83480	CGG	BLZF1	-	NULL	ENSG00000117475		0.418	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	HGNC	protein_coding	OTTHUMT00000086109.1	-	0.00	91	0	C	NM_003666		169349810	+1	tier1	-	no_errors	ENST00000329281	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	T
BRD1	23774	genome.wustl.edu	37	22	50217249	50217249	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:50217249C>T	ENST00000216267.8	-	1	1203	c.717G>A	c.(715-717)ctG>ctA	p.L239L	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Silent_p.L239L|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Silent_p.L239L|BRD1_ENST00000457780.2_Silent_p.L239L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	239					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTGCACGGCCAGGTTGCACA	0.657																																																	0													46.0	38.0	41.0					22																	50217249		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.717G>A	22.37:g.50217249C>T			A6ZJA4	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.L239	ENST00000216267.8	37	c.717	CCDS14080.1	22																																																																																			BRD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000100425		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0.00	18	0	C	NM_014577		50217249	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T
BRI3BP	140707	genome.wustl.edu	37	12	125509842	125509842	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125509842A>G	ENST00000341446.8	+	3	713	c.622A>G	c.(622-624)Agt>Ggt	p.S208G		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTGGCGAAGCAGTCCCAGCGG	0.642																																																	0													43.0	41.0	42.0					12																	125509842		2203	4300	6503	SO:0001583	missense	0			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.622A>G	12.37:g.125509842A>G	ENSP00000340761:p.Ser208Gly			Missense_Mutation	SNP	NULL	p.S208G	ENST00000341446.8	37	c.622	CCDS9262.1	12	.	.	.	.	.	.	.	.	.	.	a	3.684	-0.064933	0.07273	.	.	ENSG00000184992	ENST00000341446	.	.	.	4.46	-1.8	0.07907	.	0.334743	0.40144	N	0.001161	T	0.16557	0.0398	N	0.04090	-0.28	0.31566	N	0.656953	B	0.02656	0.0	B	0.04013	0.001	T	0.21484	-1.0244	9	0.19147	T	0.46	-13.5924	10.1349	0.42701	0.647:0.0:0.353:0.0	.	208	Q8WY22	BRI3B_HUMAN	G	208	.	ENSP00000340761:S208G	S	+	1	0	BRI3BP	124075795	0.662000	0.27439	0.741000	0.31004	0.723000	0.41478	0.511000	0.22739	-0.221000	0.09973	0.255000	0.18592	AGT	BRI3BP	-	NULL	ENSG00000184992		0.642	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2		0.00	59	0	A	NM_080626		125509842	+1			no_errors	ENST00000341446	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.704	G
BRI3BP	140707	genome.wustl.edu	37	12	125509844	125509844	+	Silent	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125509844T>C	ENST00000341446.8	+	3	715	c.624T>C	c.(622-624)agT>agC	p.S208S		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GGCGAAGCAGTCCCAGCGGcc	0.642																																																	0													42.0	41.0	41.0					12																	125509844		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.624T>C	12.37:g.125509844T>C				Silent	SNP	NULL	p.S208	ENST00000341446.8	37	c.624	CCDS9262.1	12																																																																																			BRI3BP	-	NULL	ENSG00000184992		0.642	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2		0.00	57	0	T	NM_080626		125509844	+1			no_errors	ENST00000341446	ensembl	human	known	74_37	silent	10.45	60	7	SNP	0.982	C
BTN3A3	10384	genome.wustl.edu	37	6	26452620	26452620	+	Missense_Mutation	SNP	G	G	A	rs144256388		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:26452620G>A	ENST00000244519.2	+	11	1979	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R530H|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R537H	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	579					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R579H(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTACAGGcacgcactgaagca	0.463																																																	1	Substitution - Missense(1)	lung(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	32.0	33.0		1106,1736,1589	-3.0	0.0	6	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	369/375,579/585,530/536	26452620	1,13005	2203	4300	6503	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1736G>A	6.37:g.26452620G>A	ENSP00000244519:p.Arg579His		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.R579H	ENST00000244519.2	37	c.1736	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831123	0.02713	0.0	1.16E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.39229	1.15;1.09;1.09	1.48	-2.96	0.05547	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31364	-0.9946	9	0.40728	T	0.16	.	1.5152	0.02504	0.4283:0.0:0.2652:0.3064	.	530;579	E9PCP5;O00478	.;BT3A3_HUMAN	H	579;537;530	ENSP00000244519:R579H;ENSP00000344968:R537H;ENSP00000355238:R530H	ENSP00000244519:R579H	R	+	2	0	BTN3A3	26560599	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.866000	0.01647	-0.330000	0.08514	-1.006000	0.02489	CGC	BTN3A3	-	NULL	ENSG00000111801		0.463	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2		0.00	56	0	G	NM_006994		26452620	+1			no_errors	ENST00000244519	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	A
C12orf40	283461	genome.wustl.edu	37	12	40041727	40041727	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:40041727G>T	ENST00000324616.5	+	6	672	c.518G>T	c.(517-519)gGa>gTa	p.G173V	C12orf40_ENST00000405531.3_Missense_Mutation_p.G173V|C12orf40_ENST00000398716.1_Missense_Mutation_p.G96V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	173										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTCACATCTGGAATAGCACCT	0.333																																																	0													80.0	76.0	78.0					12																	40041727		1821	4074	5895	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.518G>T	12.37:g.40041727G>T	ENSP00000317671:p.Gly173Val		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.G173V	ENST00000324616.5	37	c.518	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	1.883	-0.457398	0.04508	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44083	0.93;0.94	3.65	0.354	0.16063	.	1.229440	0.06050	N	0.656370	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.24404	-1.0161	10	0.48119	T	0.1	.	1.0564	0.01591	0.1509:0.226:0.3928:0.2303	.	173	Q86WS4	CL040_HUMAN	V	173;96;173	ENSP00000383897:G173V;ENSP00000317671:G173V	ENSP00000317671:G173V	G	+	2	0	C12orf40	38327994	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.019000	0.13444	0.068000	0.16574	0.557000	0.71058	GGA	C12orf40	-	NULL	ENSG00000180116		0.333	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0.00	77	0	G	NM_173599		40041727	+1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.001	T
CACNA1G	8913	genome.wustl.edu	37	17	48673965	48673965	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:48673965C>T	ENST00000359106.5	+	15	3022	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P985S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P985S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P985S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P985S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P985S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1008					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTCTTCTCACCCAGCCTGGA	0.607																																																	0													101.0	111.0	108.0					17																	48673965		2092	4217	6309	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3022C>T	17.37:g.48673965C>T	ENSP00000352011:p.Pro1008Ser		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.P1008S	ENST00000359106.5	37	c.3022	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	8.634	0.894296	0.17613	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-3.86;-3.86;-4.02;-3.79;-3.85;-3.85;-3.89;-3.96;-3.9;-3.94;-3.95;-3.83;-3.83;-3.9;-3.85;-3.79;-3.89;-3.84;-3.83;-3.89;-3.86;-3.83;-3.88;-3.82;-3.89;-3.89	5.11	5.11	0.69529	.	0.163853	0.40818	N	0.001015	D	0.93190	0.7831	N	0.01874	-0.695	0.26933	N	0.966429	D;B;P;D;P;D;D;B;D;B;B;B;B;P;D;B;B;B;B;B;D;B;B;B;B;B	0.71674	0.998;0.001;0.456;0.997;0.749;0.972;0.998;0.227;0.996;0.006;0.349;0.005;0.002;0.615;0.99;0.001;0.069;0.037;0.094;0.066;0.997;0.001;0.349;0.002;0.005;0.113	D;B;B;D;B;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B;B	0.81914	0.99;0.004;0.304;0.995;0.269;0.724;0.993;0.138;0.909;0.004;0.108;0.01;0.004;0.276;0.795;0.004;0.053;0.029;0.037;0.041;0.986;0.004;0.108;0.004;0.004;0.113	D	0.86451	0.1773	10	0.22109	T	0.4	.	13.3111	0.60380	0.0:0.8415:0.1585:0.0	.	985;1008;1008;1008;1008;1008;1008;1008;1008;1008;1008;985;1008;1008;1008;1008;1008;985;1008;985;985;985;985;1008;985;1008	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	S	985;985;1008;985;985;985;1008;1008;985;1008;1008;1008;1008;1008;1008;985;1008;1008;1008;1008;985;1008;1008;1008;1008;1008	ENSP00000353990:P985S;ENSP00000339302:P985S;ENSP00000392390:P1008S;ENSP00000347078:P985S;ENSP00000409759:P985S;ENSP00000425522:P985S;ENSP00000426261:P1008S;ENSP00000425451:P1008S;ENSP00000422407:P985S;ENSP00000426814:P1008S;ENSP00000427238:P1008S;ENSP00000423112:P1008S;ENSP00000420918:P1008S;ENSP00000426172:P1008S;ENSP00000423045:P1008S;ENSP00000427173:P985S;ENSP00000426098:P1008S;ENSP00000425698:P1008S;ENSP00000426232:P1008S;ENSP00000423317:P1008S;ENSP00000350979:P985S;ENSP00000352011:P1008S;ENSP00000414388:P1008S;ENSP00000423155:P1008S;ENSP00000422268:P1008S;ENSP00000421518:P1008S	ENSP00000339302:P985S	P	+	1	0	CACNA1G	46028964	0.009000	0.17119	0.997000	0.53966	0.990000	0.78478	2.381000	0.44336	2.375000	0.81037	0.561000	0.74099	CCC	CACNA1G	-	NULL	ENSG00000006283		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0.00	82	0	C	NM_018896		48673965	+1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	5.63	66	4	SNP	0.888	T
CACNA1G	8913	genome.wustl.edu	37	17	48694853	48694853	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:48694853G>T	ENST00000359106.5	+	29	5076	c.5076G>T	c.(5074-5076)ctG>ctT	p.L1692L	CACNA1G_ENST00000513964.1_Silent_p.L1647L|CACNA1G_ENST00000512389.1_Silent_p.L1681L|CACNA1G_ENST00000503485.1_Silent_p.L1658L|CACNA1G_ENST00000514181.1_Silent_p.L1674L|CACNA1G_ENST00000510115.1_Silent_p.L1658L|CACNA1G_ENST00000510366.1_Silent_p.L1640L|CACNA1G_ENST00000442258.2_Silent_p.L1651L|CACNA1G_ENST00000429973.2_Silent_p.L1674L|CACNA1G_ENST00000354983.4_Silent_p.L1658L|CACNA1G_ENST00000507896.1_Silent_p.L1681L|CACNA1G_ENST00000514079.1_Silent_p.L1699L|CACNA1G_ENST00000514717.1_Silent_p.L1635L|CACNA1G_ENST00000507609.1_Silent_p.L1692L|CACNA1G_ENST00000352832.5_Silent_p.L1658L|CACNA1G_ENST00000513689.2_Silent_p.L1647L|CACNA1G_ENST00000515411.1_Silent_p.L1674L|CACNA1G_ENST00000507336.1_Silent_p.L1681L|CACNA1G_ENST00000515765.1_Silent_p.L1681L|CACNA1G_ENST00000507510.2_Silent_p.L1692L|CACNA1G_ENST00000515165.1_Silent_p.L1692L|CACNA1G_ENST00000505165.1_Silent_p.L1692L|CACNA1G_ENST00000502264.1_Silent_p.L1669L|CACNA1G_ENST00000358244.5_Silent_p.L1658L|CACNA1G_ENST00000360761.4_Silent_p.L1669L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1692					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATCACGCTGGAGGAAATCG	0.617																																																	0													70.0	70.0	70.0					17																	48694853		2160	4267	6427	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5076G>T	17.37:g.48694853G>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1692	ENST00000359106.5	37	c.5076	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0.00	59	0	G	NM_018896		48694853	+1			no_errors	ENST00000359106	ensembl	human	known	74_37	silent	6.49	72	5	SNP	1.000	T
CC2D1B	200014	genome.wustl.edu	37	1	52820354	52820354	+	Missense_Mutation	SNP	C	C	T	rs368215179		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:52820354C>T	ENST00000371586.2	-	23	2512	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	CC2D1B_ENST00000284376.3_Missense_Mutation_p.D786N|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Missense_Mutation_p.D167N|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	792	C2.					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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGCTTGTCGCTTCTGAAG	0.587																																																	0								C	ASN/ASP	0,4406		0,0,2203	119.0	109.0	112.0		2374	5.7	1.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	CC2D1B	NM_032449.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	792/859	52820354	1,13005	2203	4300	6503	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2374G>A	1.37:g.52820354C>T	ENSP00000360642:p.Asp792Asn		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.D792N	ENST00000371586.2	37	c.2374	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.792506	0.96945	0.0	1.16E-4	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.50548	0.74;0.74;0.74	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77021	-0.2742	10	0.62326	D	0.03	-25.7781	19.9142	0.97043	0.0:1.0:0.0:0.0	.	572;786;792	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	N	792;786;700;167	ENSP00000360642:D792N;ENSP00000284376:D786N;ENSP00000406300:D167N	ENSP00000284376:D786N	D	-	1	0	CC2D1B	52592942	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.056000	0.76662	2.941000	0.99782	0.655000	0.94253	GAC	CC2D1B	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000154222		0.587	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1		0.00	67	0	C	NM_032449		52820354	-1			no_errors	ENST00000371586	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
CCDC149	91050	genome.wustl.edu	37	4	24838108	24838108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:24838108G>A	ENST00000389609.4	-	8	828	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Nonsense_Mutation_p.Q229*	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	174										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCATGGAGTTGCTTTAATCTC	0.353																																																	0													242.0	219.0	227.0					4																	24838108		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.685C>T	4.37:g.24838108G>A	ENSP00000374260:p.Gln229*		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Nonsense_Mutation	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.Q229*	ENST00000389609.4	37	c.685	CCDS33967.2	4	.	.	.	.	.	.	.	.	.	.	G	36	5.632585	0.96682	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	4.71	4.71	0.59529	.	0.168497	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.4852	17.8676	0.88800	0.0:0.0:1.0:0.0	.	.	.	.	X	229;229;153;174	.	ENSP00000371550:Q153X	Q	-	1	0	CCDC149	24447206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.431000	0.82371	0.650000	0.86243	CAA	CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.353	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	-	0.00	52	0	G	NM_173463		24838108	-1	tier1	-	no_errors	ENST00000504487	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A
CCNI2	645121	genome.wustl.edu	37	5	132088631	132088631	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:132088631G>A	ENST00000378731.1	+	6	1130	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	SEPT8_ENST00000481030.1_Intron|SEPT8_ENST00000378719.2_Intron	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	360					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCCTCCTGCACAGACAAC	0.498																																																	0													126.0	107.0	113.0					5																	132088631		2203	4300	6503	SO:0001583	missense	0			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.1079G>A	5.37:g.132088631G>A	ENSP00000368005:p.Cys360Tyr		B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.C360Y	ENST00000378731.1	37	c.1079	CCDS34236.1	5	.	.	.	.	.	.	.	.	.	.	g	11.52	1.661993	0.29515	.	.	ENSG00000205089	ENST00000378731	T	0.20598	2.06	5.44	2.35	0.29111	.	2.107470	0.02924	N	0.138286	T	0.23133	0.0559	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50617	0.937;0.838;0.937	P;P;P	0.51806	0.68;0.548;0.68	T	0.12218	-1.0556	10	0.72032	D	0.01	.	4.8266	0.13419	0.2989:0.1538:0.5473:0.0	.	361;376;360	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	Y	360	ENSP00000368005:C360Y	ENSP00000368005:C360Y	C	+	2	0	CCNI2	132116530	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.299000	0.19138	0.343000	0.23821	0.651000	0.88453	TGC	CCNI2	-	NULL	ENSG00000205089		0.498	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CCNI2	HGNC	protein_coding	OTTHUMT00000132833.1	-	0.00	46	0	G	NM_001039780		132088631	+1	tier1	-	no_errors	ENST00000378731	ensembl	human	novel	74_37	missense	18.00	41	9	SNP	0.000	A
CCR7	1236	genome.wustl.edu	37	17	38711549	38711549	+	Silent	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:38711549G>A	ENST00000246657.2	-	3	644	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CCR7_ENST00000579344.1_Silent_p.L188L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	194					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.L194L(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CACTGTACAGGAGCTCTGGGA	0.582																																																	1	Substitution - coding silent(1)	urinary_tract(1)											64.0	56.0	59.0					17																	38711549		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.582C>T	17.37:g.38711549G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1	p.L194	ENST00000246657.2	37	c.582	CCDS11369.1	17																																																																																			CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn	ENSG00000126353		0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1		0.00	19	0	G			38711549	-1			no_errors	ENST00000246657	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.996	A
CD93	22918	genome.wustl.edu	37	20	23066170	23066170	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:23066170C>T	ENST00000246006.4	-	1	807	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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)					CTACATTGGCCGCAGAGGCAA	0.622																																																	0													80.0	81.0	81.0					20																	23066170		2203	4300	6503	SO:0001819	synonymous_variant	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.660G>A	20.37:g.23066170C>T			O00274	Silent	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.A220	ENST00000246006.4	37	c.660	CCDS13149.1	20																																																																																			CD93	-	pirsf_CD93/CD141	ENSG00000125810		0.622	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0.00	56	0	C	NM_012072		23066170	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	silent	20.00	64	16	SNP	0.000	T
CDRT15L2	256223	genome.wustl.edu	37	17	20483230	20483230	+	Silent	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:20483230C>A	ENST00000399044.1	+	1	194	c.174C>A	c.(172-174)ggC>ggA	p.G58G	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	58						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						CCCTAGCTGGCCAGGCCACAC	0.627																																																	0																																										SO:0001819	synonymous_variant	0				CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.174C>A	17.37:g.20483230C>A				Silent	SNP	NULL	p.G58	ENST00000399044.1	37	c.174	CCDS54096.1	17																																																																																			CDRT15L2	-	NULL	ENSG00000214819		0.627	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT15L2	HGNC	protein_coding	OTTHUMT00000132432.3	-	0.00	82	0	C	XM_170840		20483230	+1	tier1	-	no_errors	ENST00000399044	ensembl	human	known	74_37	silent	13.48	77	12	SNP	0.006	A
CELSR2	1952	genome.wustl.edu	37	1	109793851	109793851	+	Missense_Mutation	SNP	G	G	A	rs149311467	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109793851G>A	ENST00000271332.3	+	1	1211	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	384	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TACCACAGCCGCTGTTTTCCT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)												0													57.0	64.0	62.0					1																	109793851		2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1150G>A	1.37:g.109793851G>A	ENSP00000271332:p.Ala384Thr		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A384T	ENST00000271332.3	37	c.1150	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	0.918	-0.716878	0.03206	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.99	1.96	0.26148	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00109	0.0003	N	0.00054	-2.38	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.21895	-1.0232	9	0.10636	T	0.68	.	2.8443	0.05538	0.2671:0.0:0.3815:0.3514	.	384	Q9HCU4	CELR2_HUMAN	T	384	ENSP00000271332:A384T	ENSP00000271332:A384T	A	+	1	0	CELSR2	109595374	0.523000	0.26274	0.005000	0.12908	0.920000	0.55202	3.115000	0.50391	0.255000	0.21593	0.555000	0.69702	GCT	CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	78	0	G	NM_001408		109793851	+1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.097	A
CELSR3	1951	genome.wustl.edu	37	3	48697619	48697619	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:48697619G>T	ENST00000164024.4	-	1	2729	c.2449C>A	c.(2449-2451)Ctg>Atg	p.L817M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L817M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	817	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGTGGCAGAGCCAGAGTC	0.547																																																	0													128.0	121.0	124.0					3																	48697619		2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2449C>A	3.37:g.48697619G>T	ENSP00000164024:p.Leu817Met		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L817M	ENST00000164024.4	37	c.2449	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373457	0.42105	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51071	0.72;0.72	5.67	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61602	0.2360	L	0.60845	1.875	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60870	-0.7177	9	0.52906	T	0.07	.	10.2635	0.43441	0.2036:0.0:0.7964:0.0	.	817;887	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	817	ENSP00000164024:L817M;ENSP00000445694:L817M	ENSP00000164024:L817M	L	-	1	2	CELSR3	48672623	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.615000	0.61190	2.686000	0.91538	0.561000	0.74099	CTG	CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000008300		0.547	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0.00	32	0	G	NM_001407		48697619	-1	tier1	-	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.986	T
CEP120	153241	genome.wustl.edu	37	5	122717867	122717867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:122717867G>A	ENST00000306467.5	-	14	2345	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	CEP120_ENST00000328236.5_Nonsense_Mutation_p.Q681*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.Q655*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	681					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GCAAGAGCCTGCATATGAGCC	0.368																																																	0													114.0	113.0	113.0					5																	122717867		2203	4299	6502	SO:0001587	stop_gained	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2041C>T	5.37:g.122717867G>A	ENSP00000303058:p.Gln681*		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_dom	p.Q681*	ENST00000306467.5	37	c.2041	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	39	7.751545	0.98468	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	.	.	.	5.1	4.2	0.49525	.	0.056050	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-11.6201	14.6107	0.68514	0.0:0.0:0.8527:0.1473	.	.	.	.	X	681;681;655;655	.	ENSP00000303058:Q681X	Q	-	1	0	CEP120	122745766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.896000	0.69822	1.237000	0.43756	0.585000	0.79938	CAG	CEP120	-	NULL	ENSG00000168944		0.368	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2		0.00	81	0	G	NM_153223		122717867	-1			no_errors	ENST00000306467	ensembl	human	known	74_37	nonsense	6.17	76	5	SNP	1.000	A
CHSY3	337876	genome.wustl.edu	37	5	129520782	129520782	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:129520782G>T	ENST00000305031.4	+	3	2305	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	649					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.K649N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTATCCCAAAGCAGAATGTAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											78.0	80.0	80.0					5																	129520782		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1947G>T	5.37:g.129520782G>T	ENSP00000302629:p.Lys649Asn		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.K649N	ENST00000305031.4	37	c.1947	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	1.470	-0.560151	0.03967	.	.	ENSG00000198108	ENST00000305031	T	0.34275	1.37	4.12	2.29	0.28610	.	0.320592	0.26387	N	0.024671	T	0.10423	0.0255	N	0.01168	-0.975	0.43947	D	0.996615	B	0.09022	0.002	B	0.14023	0.01	T	0.08391	-1.0724	9	.	.	.	-7.9195	5.4618	0.16622	0.086:0.1439:0.622:0.1481	.	649	Q70JA7	CHSS3_HUMAN	N	649	ENSP00000302629:K649N	.	K	+	3	2	CHSY3	129548681	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.599000	0.36751	0.646000	0.30693	0.650000	0.86243	AAG	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1		0.00	34	0	G	NM_175856		129520782	+1			no_errors	ENST00000305031	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
PCGF2	7703	genome.wustl.edu	37	17	36891292	36891292	+	3'UTR	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:36891292T>C	ENST00000580830.1	-	0	1920				CISD3_ENST00000578573.1_3'UTR|PCGF2_ENST00000581345.1_3'UTR|PCGF2_ENST00000360797.2_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GGTTGGTCCATAGAAAATAAG	0.373											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*184A>G	17.37:g.36891292T>C		866	A6NGD8	RNA	SNP	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.373	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2	-	0.00	234	0	T	NM_007144		36891292	+1	tier1	-	no_errors	ENST00000578573	ensembl	human	known	74_37	rna	19.84	202	50	SNP	1.000	C
CLVS2	134829	genome.wustl.edu	37	6	123319130	123319130	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:123319130C>T	ENST00000275162.5	+	2	1543	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	70					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGAGGCCTTCCGCCTCCTGGC	0.542																																																	0													161.0	137.0	145.0					6																	123319130		2203	4300	6503	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.208C>T	6.37:g.123319130C>T	ENSP00000275162:p.Arg70Cys		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R70C	ENST00000275162.5	37	c.208	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578860	0.86645	.	.	ENSG00000146352	ENST00000275162	D	0.85861	-2.04	5.39	5.39	0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.89300	0.3625	10	0.66056	D	0.02	-3.5264	19.3486	0.94374	0.0:1.0:0.0:0.0	.	70	Q5SYC1	CLVS2_HUMAN	C	70	ENSP00000275162:R70C	ENSP00000275162:R70C	R	+	1	0	CLVS2	123360829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.814000	0.96858	0.585000	0.79938	CGC	CLVS2	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran	ENSG00000146352		0.542	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0.00	43	0	C	NM_001010852		123319130	+1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79059088	79059088	+	Intron	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:79059088G>A	ENST00000446378.2	+	9	11586				CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5						negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAAGCTCTGGGTCCTAAACTA	0.542																																																	0																																										SO:0001627	intron_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11555+56G>A	5.37:g.79059088G>A			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	RNA	SNP	-	NULL	ENST00000446378.2	37	NULL	CCDS47238.1	5																																																																																			CMYA5	-	-	ENSG00000164309		0.542	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0.00	33	0	G	NM_153610		79059088	+1	tier1	-	no_errors	ENST00000505466	ensembl	human	known	74_37	rna	38.89	22	14	SNP	0.000	A
COBLL1	22837	genome.wustl.edu	37	2	165552272	165552272	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:165552272T>C	ENST00000392717.2	-	13	1862	c.1858A>G	c.(1858-1860)Atc>Gtc	p.I620V	COBLL1_ENST00000194871.6_Missense_Mutation_p.I649V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I582V|COBLL1_ENST00000375458.2_Missense_Mutation_p.I544V|COBLL1_ENST00000409184.3_Missense_Mutation_p.I582V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	620						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTACATTGATTTCTGTTTTC	0.323																																																	0													151.0	139.0	143.0					2																	165552272		2203	4300	6503	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1858A>G	2.37:g.165552272T>C	ENSP00000376478:p.Ile620Val		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.I649V	ENST00000392717.2	37	c.1945		2	.	.	.	.	.	.	.	.	.	.	T	0.420	-0.908902	0.02434	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.06	2.38	0.29361	.	0.826902	0.11141	N	0.595303	T	0.29914	0.0748	L	0.38531	1.155	0.09310	N	0.999996	B;B;B	0.28850	0.017;0.017;0.225	B;B;B	0.27262	0.012;0.013;0.078	T	0.22836	-1.0205	9	0.13470	T	0.59	-0.0238	9.3065	0.37878	0.0:0.3324:0.0:0.6676	.	620;649;582	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	544;582;582;620;649	.	ENSP00000194871:I649V	I	-	1	0	COBLL1	165260518	0.990000	0.36364	0.212000	0.23672	0.013000	0.08279	1.583000	0.36579	0.174000	0.19809	0.533000	0.62120	ATC	COBLL1	-	NULL	ENSG00000082438		0.323	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0.00	83	0	T	NM_014900		165552272	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	17.44	71	15	SNP	0.196	C
CPA4	51200	genome.wustl.edu	37	7	129946698	129946698	+	Silent	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:129946698T>A	ENST00000222482.4	+	7	691	c.663T>A	c.(661-663)ccT>ccA	p.P221P	CPA4_ENST00000493259.1_Silent_p.P117P|CPA4_ENST00000445470.2_Silent_p.P188P	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	221					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCTTGTTGCCTGTGGCCAATC	0.423																																																	0													139.0	117.0	125.0					7																	129946698		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.663T>A	7.37:g.129946698T>A			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P221	ENST00000222482.4	37	c.663	CCDS5818.1	7																																																																																			CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000128510		0.423	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	-	0.00	48	0	T	NM_016352		129946698	+1	tier1	-	no_errors	ENST00000222482	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.998	A
CRNKL1	51340	genome.wustl.edu	37	20	20019078	20019078	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:20019078T>C	ENST00000377340.2	-	13	2076	c.2045A>G	c.(2044-2046)tAt>tGt	p.Y682C	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.Y670C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.Y521C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	682					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAAATCAATATATGATTTCCA	0.423																																																	0													63.0	51.0	55.0					20																	20019078		2160	4189	6349	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2045A>G	20.37:g.20019078T>C	ENSP00000366557:p.Tyr682Cys		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.Y682C	ENST00000377340.2	37	c.2045	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368014	0.82463	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.61392	0.11;0.11;0.11	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	H	0.94620	3.56	0.80722	D	1	P	0.44816	0.844	P	0.53809	0.735	D	0.84567	0.0653	10	0.62326	D	0.03	-18.0902	16.3945	0.83586	0.0:0.0:0.0:1.0	.	682	Q9BZJ0	CRNL1_HUMAN	C	670;682;521	ENSP00000366544:Y670C;ENSP00000366557:Y682C;ENSP00000440733:Y521C	ENSP00000366544:Y670C	Y	-	2	0	CRNKL1	19967078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.983000	0.70540	2.265000	0.75225	0.482000	0.46254	TAT	CRNKL1	-	smart_HAT	ENSG00000101343		0.423	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0.00	84	0	T			20019078	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	18.18	99	22	SNP	1.000	C
CSK	1445	genome.wustl.edu	37	15	75094182	75094182	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:75094182C>T	ENST00000220003.9	+	11	1763	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSK_ENST00000567571.1_Missense_Mutation_p.T345M|CSK_ENST00000309470.9_Missense_Mutation_p.T345M|CSK_ENST00000439220.2_Missense_Mutation_p.T345M	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						ACCCAGGACACGGGCAAGCTG	0.647																																																	0													37.0	38.0	38.0					15																	75094182		2197	4296	6493	SO:0001583	missense	0				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1034C>T	15.37:g.75094182C>T	ENSP00000220003:p.Thr345Met		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.T345M	ENST00000220003.9	37	c.1034	CCDS10269.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306573	0.81247	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.82984	-1.67;-1.67;-1.67	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.38531	1.155	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	D	0.88064	0.2796	10	0.87932	D	0	-16.1395	17.2222	0.86960	0.0:1.0:0.0:0.0	.	345	P41240	CSK_HUMAN	M	345;345;294;345	ENSP00000220003:T345M;ENSP00000414764:T345M;ENSP00000438808:T345M	ENSP00000220003:T345M	T	+	2	0	CSK	72881235	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.395000	0.81488	0.561000	0.74099	ACG	CSK	-	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	ENSG00000103653		0.647	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSK	HGNC	protein_coding	OTTHUMT00000286398.2	-	0.00	27	0	C	NM_004383		75094182	+1	tier1	-	no_errors	ENST00000220003	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88779139	88779139	+	IGR	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:88779139T>C	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Missense_Mutation_p.L188P|CTU2_ENST00000453996.2_Missense_Mutation_p.L188P|CTU2_ENST00000567949.1_Missense_Mutation_p.L259P|CTU2_ENST00000378384.3_Missense_Mutation_p.L101P	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CAGCATGTGCTGGGGGCCGGG	0.706																																																	0													16.0	21.0	19.0					16																	88779139		2186	4291	6477	SO:0001628	intergenic_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779139T>C			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.L259P	ENST00000301015.9	37	c.776	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440702	0.43326	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.19938	2.11;2.36;2.37	4.22	0.103	0.14526	.	0.784752	0.11045	N	0.605670	T	0.27731	0.0682	L	0.51422	1.61	0.28038	N	0.933857	D;D;P	0.63880	0.993;0.958;0.93	P;P;P	0.59487	0.858;0.563;0.564	T	0.17806	-1.0357	10	0.30854	T	0.27	.	3.5429	0.07818	0.2807:0.2245:0.0:0.4948	.	101;188;188	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	P	101;188;188	ENSP00000367635:L101P;ENSP00000308617:L188P;ENSP00000388320:L188P	ENSP00000308617:L188P	L	+	2	0	CTU2	87306640	0.003000	0.15002	0.014000	0.15608	0.012000	0.07955	0.126000	0.15769	0.112000	0.17975	-0.417000	0.06048	CTG	CTU2	-	NULL	ENSG00000174177		0.706	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	-	0.00	47	0	T	NM_014745		88779139	+1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	missense	10.53	33	4	SNP	0.009	C
DBI	1622	genome.wustl.edu	37	2	120125868	120125868	+	Silent	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:120125868C>A	ENST00000355857.3	+	2	245	c.114C>A	c.(112-114)ggC>ggA	p.G38G	DBI_ENST00000535617.1_Silent_p.G80G|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000542275.1_Silent_p.G99G|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000393103.2_Silent_p.G39G|DBI_ENST00000311521.4_Silent_p.G55G|DBI_ENST00000409094.1_Silent_p.G55G|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000535757.1_Silent_p.G55G|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000460901.1_3'UTR|C2orf76_ENST00000498049.1_5'Flank	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	38	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						CAACTGTGGGCGACATAAATA	0.512																																																	0													118.0	107.0	111.0					2																	120125868		2203	4300	6503	SO:0001819	synonymous_variant	0			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.114C>A	2.37:g.120125868C>A			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Silent	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.G99	ENST00000355857.3	37	c.297	CCDS42740.1	2																																																																																			DBI	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	ENSG00000155368		0.512	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBI	HGNC	protein_coding	OTTHUMT00000330590.1	-	0.00	41	0	C	NM_020548		120125868	+1	tier1	-	no_errors	ENST00000542275	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.637	A
DDAH1	23576	genome.wustl.edu	37	1	85787117	85787118	+	3'UTR	INS	-	-	G	rs376128434|rs3087894	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:85787117_85787118insG	ENST00000284031.8	-	0	969_970				DDAH1_ENST00000426972.3_3'UTR|DDAH1_ENST00000535924.2_3'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_3'UTR|DDAH1_ENST00000542148.1_3'UTR|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000483110.1_5'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TGCCGGCAACCGGGGGGGACTC	0.525																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.*18->C	1.37:g.85787124_85787124dupG			Q5HYC8|Q86XK5	RNA	INS	-	NULL	ENST00000284031.8	37	NULL	CCDS705.1	1																																																																																			DDAH1	-	-	ENSG00000153904		0.525	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1		0.00	96	0	-			85787118	-1	tier1		no_errors	ENST00000483110	ensembl	human	known	74_37	rna	42.61	66	49	INS	0.002:0.010	G
DCAF6	55827	genome.wustl.edu	37	1	167985183	167985183	+	Intron	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:167985183G>T	ENST00000312263.6	+	10	1582				DCAF6_ENST00000367843.3_Intron|DCAF6_ENST00000432587.2_Missense_Mutation_p.A484S|DCAF6_ENST00000367840.3_Missense_Mutation_p.A515S	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GGACCCTCATGCTTCAGGTTA	0.453																																																	0																																										SO:0001627	intron_variant	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1378+11152G>T	1.37:g.167985183G>T			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.A515S	ENST00000312263.6	37	c.1543	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	G	3.543	-0.093251	0.07053	.	.	ENSG00000143164	ENST00000432587;ENST00000367840	T;T	0.80566	0.34;-1.39	5.33	1.18	0.20946	.	0.747332	0.12435	N	0.469236	T	0.36799	0.0980	.	.	.	0.23445	N	0.997668	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.02975	-1.1087	8	0.13853	T	0.58	.	2.4694	0.04560	0.2295:0.1922:0.4629:0.1155	.	484;515	B4DNB8;Q58WW2-3	.;.	S	484;515	ENSP00000396238:A484S;ENSP00000356814:A515S	ENSP00000356814:A515S	A	+	1	0	DCAF6	166251807	0.002000	0.14202	0.252000	0.24328	0.981000	0.71138	-0.180000	0.09754	0.752000	0.32923	0.655000	0.94253	GCT	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.453	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0.00	44	0	G	NM_018442		167985183	+1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.012	T
DDX54	79039	genome.wustl.edu	37	12	113617119	113617119	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:113617119C>G	ENST00000306014.5	-	4	420	c.393G>C	c.(391-393)ttG>ttC	p.L131F	DDX54_ENST00000314045.7_Missense_Mutation_p.L131F|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTTGCCATCCAAGATCACCG	0.607																																																	0													39.0	36.0	37.0					12																	113617119		2202	4300	6502	SO:0001583	missense	0			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.393G>C	12.37:g.113617119C>G	ENSP00000304072:p.Leu131Phe		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,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.L131F	ENST00000306014.5	37	c.393	CCDS31907.1	12	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778182	0.70107	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.23348	1.91;1.91;1.91	5.55	5.55	0.83447	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.54919	0.1888	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.60777	-0.7196	10	0.87932	D	0	.	14.0112	0.64498	0.1514:0.8486:0.0:0.0	.	131;131	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	F	131;131;48	ENSP00000323858:L131F;ENSP00000304072:L131F;ENSP00000448477:L48F	ENSP00000304072:L131F	L	-	3	2	DDX54	112101502	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.110000	0.50352	2.608000	0.88229	0.462000	0.41574	TTG	DDX54	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000123064		0.607	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	-	0.00	45	0	C	NM_024072		113617119	-1	tier1	-	no_errors	ENST00000314045	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G
DENND2C	163259	genome.wustl.edu	37	1	115127989	115127989	+	3'UTR	DEL	A	A	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:115127989delA	ENST00000393274.1	-	0	3644				DENND2C_ENST00000393276.3_3'UTR|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTGCTATAAAAAAAAAAT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.*232T>-	1.37:g.115127989delA			B1AL26|Q5TCX6|Q6P3R3	RNA	DEL	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			DENND2C	-	-	ENSG00000175984		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1		0.00	27	0	A	NM_198459		115127989	-1	tier1		no_errors	ENST00000495031	ensembl	human	known	74_37	rna	33.33	12	6	DEL	0.000	-
DEPDC5	9681	genome.wustl.edu	37	22	32205625	32205625	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:32205625G>T	ENST00000382112.3	+	18	1386	c.1316G>T	c.(1315-1317)cGt>cTt	p.R439L	DEPDC5_ENST00000382105.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R439L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R439L|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R439L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R411L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R439L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	439					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAAAATGGCCGTGATACATGT	0.393																																																	0													92.0	88.0	89.0					22																	32205625		1825	4084	5909	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1316G>T	22.37:g.32205625G>T	ENSP00000371546:p.Arg439Leu		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R439L	ENST00000382112.3	37	c.1316	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328461	0.41197	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.45276	1.49;1.47;0.9;1.89;1.88;1.88;1.46;1.89;1.88;1.88	5.31	4.29	0.51040	.	0.198026	0.46442	D	0.000289	T	0.29914	0.0748	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.31318	0.093;0.024;0.319;0.132;0.16;0.001	B;B;B;B;B;B	0.26094	0.03;0.017;0.066;0.024;0.03;0.003	T	0.07139	-1.0788	10	0.27082	T	0.32	.	9.1458	0.36933	0.1671:0.0:0.8329:0.0	.	439;411;439;439;439;439	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	L	439;411;439;439;439;439;439;439;439;439;439	ENSP00000440210:R439L;ENSP00000441358:R411L;ENSP00000383101:R439L;ENSP00000266091:R439L;ENSP00000383108:R439L;ENSP00000383105:R439L;ENSP00000371539:R439L;ENSP00000371546:R439L;ENSP00000371545:R439L;ENSP00000383107:R439L	ENSP00000266091:R439L	R	+	2	0	DEPDC5	30535625	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.150000	0.50662	1.250000	0.43966	0.650000	0.86243	CGT	DEPDC5	-	NULL	ENSG00000100150		0.393	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0.00	41	0	G	NM_014662		32205625	+1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
DHX57	90957	genome.wustl.edu	37	2	39042707	39042707	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:39042707T>C	ENST00000295373.6	-	20	3688	c.3562A>G	c.(3562-3564)Agg>Ggg	p.R1188G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1188							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTTGGGCCCTTTTCTCAATT	0.443																																					Melanoma(191;1090 2095 4375 23729 47341)												0													232.0	217.0	222.0					2																	39042707		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3562A>G	2.37:g.39042707T>C	ENSP00000295373:p.Arg1188Gly		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1188G	ENST00000295373.6	37	c.3562	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.75|12.75	2.030132|2.030132	0.35797|0.35797	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	T|T	0.04234|0.02890	3.67|4.12	5.29|5.29	2.81|2.81	0.32909|0.32909	.|Domain of unknown function DUF1605 (1);	.|0.100904	.|0.43579	.|D	.|0.000546	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.04746|0.04746	-0.17|-0.17	0.34569|0.34569	D|D	0.713265|0.713265	.|P;B	.|0.39424	.|0.673;0.001	.|B;B	.|0.39027	.|0.288;0.014	T|T	0.54476|0.54476	-0.8288|-0.8288	7|10	0.06365|0.54805	T|T	0.9|0.06	.|.	12.8743|12.8743	0.57982|0.57982	0.0:0.0:0.3873:0.6127|0.0:0.0:0.3873:0.6127	.|.	.|1188;580	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	R|G	511|1188	ENSP00000397841:K511R|ENSP00000295373:R1188G	ENSP00000397841:K511R|ENSP00000295373:R1188G	K|R	-|-	2|1	0|2	DHX57|DHX57	38896211|38896211	1.000000|1.000000	0.71417|0.71417	0.675000|0.675000	0.29917|0.29917	0.911000|0.911000	0.54048|0.54048	1.478000|1.478000	0.35442|0.35442	0.362000|0.362000	0.24319|0.24319	-0.460000|-0.460000	0.05396|0.05396	AAG|AGG	DHX57	-	pfam_DUF1605	ENSG00000163214		0.443	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2		0.00	95	0	T	NM_145646		39042707	-1			no_errors	ENST00000295373	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.688	C
DIDO1	11083	genome.wustl.edu	37	20	61542393	61542393	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:61542393T>A	ENST00000266070.4	-	3	897	c.572A>T	c.(571-573)aAg>aTg	p.K191M	DIDO1_ENST00000370371.4_Missense_Mutation_p.K191M|DIDO1_ENST00000370366.1_Missense_Mutation_p.K191M|DIDO1_ENST00000354665.4_Missense_Mutation_p.K191M|DIDO1_ENST00000395343.1_Missense_Mutation_p.K191M|DIDO1_ENST00000370368.1_Missense_Mutation_p.K191M|DIDO1_ENST00000395340.1_Missense_Mutation_p.K191M|DIDO1_ENST00000395335.2_Missense_Mutation_p.K191M|DIDO1_ENST00000266071.5_Missense_Mutation_p.K191M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	191					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCCGGCGCTTCTTCCGCAG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													33.0	36.0	35.0					20																	61542393		2203	4300	6503	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.572A>T	20.37:g.61542393T>A	ENSP00000266070:p.Lys191Met		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	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.K191M	ENST00000266070.4	37	c.572	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847024	0.51164	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.22539	3.45;3.45;2.47;2.47;1.95;1.95;1.95;1.96;1.96	5.48	0.588	0.17445	.	0.161291	0.28317	U	0.015791	T	0.31071	0.0785	M	0.63428	1.95	0.18873	N	0.999984	D;D;P;D	0.69078	0.991;0.997;0.911;0.98	P;P;P;P	0.58873	0.847;0.847;0.723;0.533	T	0.10847	-1.0612	10	0.66056	D	0.02	-12.7286	5.5922	0.17307	0.0:0.3087:0.1383:0.553	.	191;191;191;191	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	M	191	ENSP00000266070:K191M;ENSP00000378752:K191M;ENSP00000378749:K191M;ENSP00000378744:K191M;ENSP00000359397:K191M;ENSP00000359394:K191M;ENSP00000346692:K191M;ENSP00000359391:K191M;ENSP00000266071:K191M	ENSP00000266070:K191M	K	-	2	0	DIDO1	61012838	0.012000	0.17670	0.439000	0.26833	0.643000	0.38383	-0.015000	0.12634	-0.171000	0.10797	0.459000	0.35465	AAG	DIDO1	-	NULL	ENSG00000101191		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0.00	28	0	T	NM_080796		61542393	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	15.62	26	5	SNP	0.032	A
DST	667	genome.wustl.edu	37	6	56418172	56418172	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:56418172G>T	ENST00000361203.3	-	57	14792	c.14785C>A	c.(14785-14787)Ctt>Att	p.L4929I	DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.L5109I|DST_ENST00000446842.2_Missense_Mutation_p.L4605I|DST_ENST00000244364.6_Missense_Mutation_p.L2517I|DST_ENST00000370769.4_Missense_Mutation_p.L4931I|DST_ENST00000370788.2_Missense_Mutation_p.L2843I|DST_ENST00000421834.2_Missense_Mutation_p.L2843I			Q03001	DYST_HUMAN	dystonin	4929					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTGTATTAAGCTGTAACTGT	0.338																																																	0													117.0	110.0	112.0					6																	56418172		1816	4080	5896	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14785C>A	6.37:g.56418172G>T	ENSP00000354508:p.Leu4929Ile		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L5109I	ENST00000361203.3	37	c.15325		6	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364885	0.41902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.61	4.68	0.58851	.	0.144721	0.31821	N	0.007008	T	0.52451	0.1735	M	0.64170	1.965	0.25823	N	0.984266	B;P;P;B;B	0.52061	0.083;0.95;0.95;0.142;0.077	B;P;P;B;B	0.60415	0.097;0.874;0.773;0.072;0.099	T	0.54186	-0.8331	9	0.38643	T	0.18	.	8.8207	0.35025	0.0768:0.0:0.6979:0.2253	.	2843;4931;5109;4929;2517	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	2517;5109;4931;2843;4605;2843;4929	ENSP00000244364:L2517I;ENSP00000359790:L5109I;ENSP00000359805:L4931I;ENSP00000400883:L2843I;ENSP00000393645:L4605I;ENSP00000359824:L2843I;ENSP00000354508:L4929I	ENSP00000244364:L2517I	L	-	1	0	DST	56526131	1.000000	0.71417	0.956000	0.39512	0.921000	0.55340	5.459000	0.66685	2.802000	0.96397	0.655000	0.94253	CTT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	37	0	G	NM_001723		56418172	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T
EGF	1950	genome.wustl.edu	37	4	110901176	110901176	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:110901176A>G	ENST00000265171.5	+	14	2547	c.2102A>G	c.(2101-2103)gAt>gGt	p.D701G	EGF_ENST00000509793.1_Missense_Mutation_p.D659G|EGF_ENST00000503392.1_Missense_Mutation_p.D701G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	701					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGTTCTCAGATTGGGCTATG	0.433																																																	0													230.0	219.0	223.0					4																	110901176		2203	4300	6503	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2102A>G	4.37:g.110901176A>G	ENSP00000265171:p.Asp701Gly		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.D701G	ENST00000265171.5	37	c.2102	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279651	0.80692	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91945	-2.94;-2.94;-2.94	5.56	5.56	0.83823	Six-bladed beta-propeller, TolB-like (1);	0.043067	0.85682	D	0.000000	D	0.97009	0.9023	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72075	0.969;0.976;0.969	D	0.98045	1.0384	10	0.87932	D	0	.	15.7219	0.77718	1.0:0.0:0.0:0.0	.	701;659;701	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	659;701;701	ENSP00000424316:D659G;ENSP00000265171:D701G;ENSP00000421384:D701G	ENSP00000265171:D701G	D	+	2	0	EGF	111120625	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	7.829000	0.86735	2.112000	0.64535	0.533000	0.62120	GAT	EGF	-	pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt	ENSG00000138798		0.433	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0.00	68	0	A			110901176	+1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	G
RIMS2	9699	genome.wustl.edu	37	8	104863873	104863874	+	Intron	DEL	AC	AC	-	rs56306101|rs10529078|rs369439768|rs59712615	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:104863873_104863874delAC	ENST00000507740.1	+	1	358				RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000406091.3_Intron|AP001572.1_ENST00000401294.1_RNA|RIMS2_ENST00000262231.10_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGTacacacacacac	0.366										HNSCC(12;0.0054)				3021	0.603235	0.559	0.6556	5008	,	,		10230	0.6935		0.5577	False		,,,				2504	0.5798																0																																										SO:0001627	intron_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32016AC>-	8.37:g.104863883_104863884delAC			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	DEL	-	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																			AP001572.1	-	-	ENSG00000216113		0.366	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000367215.1		0.00	20	0	AC	NM_001100117		104863874	+1	tier1		no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	19.23	21	5	DEL	0.000:0.000	-
MUC3A	4584	genome.wustl.edu	37	7	100608467	100608468	+	Intron	INS	-	-	T	rs139602002	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:100608467_100608468insT	ENST00000319509.7	+	6	2107				RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGGGAGAGACCTTTGCGGGAGG	0.624													?|TTT|TTTT|unsure	736	0.146965	0.0832	0.1254	5008	,	,		17459	0.0437		0.1779	False		,,,				2504	0.3231																0																																										SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2107+95->T	7.37:g.100608470_100608470dupT			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	INS	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-	ENSG00000225946		0.624	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1		0.00	22	0	-	XM_001725354		100608468	-1	tier1		no_errors	ENST00000420080	ensembl	human	known	74_37	rna	36.36	14	8	INS	0.001:0.001	T
RP11-64C12.4	0	genome.wustl.edu	37	18	12201074	12201074	+	lincRNA	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr18:12201074A>G	ENST00000592203.1	+	0	297																											TCTGGGTGACACAGTTGCCAC	0.562																																																	0																																												0																															18.37:g.12201074A>G				RNA	SNP	-	NULL	ENST00000592203.1	37	NULL		18																																																																																			RP11-64C12.4	-	-	ENSG00000267643		0.562	RP11-64C12.4-001	KNOWN	basic	lincRNA	ENSG00000267643	Clone_based_vega_gene	lincRNA	OTTHUMT00000452739.1	-	0.00	31	0	A			12201074	+1	tier1	-	no_errors	ENST00000592203	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.001	G
MTSS1	9788	genome.wustl.edu	37	8	125592785	125592785	+	Intron	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:125592785G>T	ENST00000518547.1	-	6	934				MTSS1_ENST00000325064.5_Intron|MTSS1_ENST00000354184.4_Intron|RP11-532M24.1_ENST00000606244.1_RNA|MTSS1_ENST00000378017.3_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGGATGGTAGACTTACCAAG	0.502																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0																																										SO:0001627	intron_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+4542C>A	8.37:g.125592785G>T			J3KNK6|Q8TCA2|Q96RX2	RNA	SNP	-	NULL	ENST00000518547.1	37	NULL	CCDS6353.1	8																																																																																			RP11-532M24.1	-	-	ENSG00000272486		0.502	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272486	Clone_based_vega_gene	protein_coding	OTTHUMT00000109625.3	-	0.00	68	0	G	NM_014751		125592785	+1	tier1	-	no_errors	ENST00000606244	ensembl	human	known	74_37	rna	7.02	53	4	SNP	0.755	T
ERBB3	2065	genome.wustl.edu	37	12	56495558	56495558	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:56495558C>T	ENST00000267101.3	+	28	4188	c.3748C>T	c.(3748-3750)Ccc>Tcc	p.P1250S	RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.P607S|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.P370S|ERBB3_ENST00000553131.1_Missense_Mutation_p.P491S|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.P1191S|RP11-603J24.17_ENST00000548595.1_RNA	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1250					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCATCATGCCCACTGCAGG	0.562																																																	0													84.0	71.0	76.0					12																	56495558		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3748C>T	12.37:g.56495558C>T	ENSP00000267101:p.Pro1250Ser		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P1250S	ENST00000267101.3	37	c.3748	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428044	0.25726	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78364	-1.0;-0.94;-0.99;-1.17;-0.92	5.29	3.44	0.39384	.	0.423844	0.23056	N	0.052424	T	0.62122	0.2402	L	0.29908	0.895	0.20307	N	0.999913	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42207	-0.9465	10	0.14252	T	0.57	.	8.9816	0.35968	0.0:0.6432:0.2799:0.0769	.	1191;370;1250	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	S	1250;607;1191;373;491;370	ENSP00000267101:P1250S;ENSP00000399178:P607S;ENSP00000408340:P1191S;ENSP00000449129:P491S;ENSP00000448729:P370S	ENSP00000267101:P1250S	P	+	1	0	ERBB3	54781825	0.000000	0.05858	0.932000	0.37286	0.970000	0.65996	0.113000	0.15499	0.776000	0.33473	0.655000	0.94253	CCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.562	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0.00	74	0	C			56495558	+1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.342	T
ERC2	26059	genome.wustl.edu	37	3	55543261	55543262	+	3'UTR	INS	-	-	T	rs148198090		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:55543261_55543262insT	ENST00000288221.6	-	0	5211_5212				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACATGGGTTGGTTTTTTTTTTC	0.386																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*2083->A	3.37:g.55543271_55543271dupT			Q2T9F6|Q86TK4	RNA	INS	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-	ENSG00000187672		0.386	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2		0.00	41	0	-	NM_015576		55543262	-1	tier1		no_errors	ENST00000484530	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.078:0.002	T
ERCC8	1161	genome.wustl.edu	37	5	60183321	60183321	+	Nonsense_Mutation	SNP	G	G	T	rs141898557		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:60183321G>T	ENST00000265038.5	-	11	1110	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*	ERCC8_ENST00000543101.1_Nonsense_Mutation_p.C203*|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Nonsense_Mutation_p.C298*	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	356					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.C356C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CCAGAATGTTGCAGTCTCTGC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)						G	stop/CYS	0,4406		0,0,2203	121.0	116.0	118.0		1068	5.2	1.0	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ERCC8	NM_000082.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		356/397	60183321	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1068C>A	5.37:g.60183321G>T	ENSP00000265038:p.Cys356*		B2RB64|Q6FHX5|Q96GB9	Nonsense_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.C356*	ENST00000265038.5	37	c.1068	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.983116	0.98594	0.0	1.16E-4	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.23	5.23	0.72850	.	0.043688	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.8869	17.1731	0.86834	0.0:0.0:1.0:0.0	.	.	.	.	X	298;356;203;355	.	ENSP00000265038:C356X	C	-	3	2	ERCC8	60219078	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.999000	0.49473	2.725000	0.93324	0.591000	0.81541	TGC	ERCC8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000049167		0.348	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2		0.00	84	0	G	NM_000082		60183321	-1			no_errors	ENST00000265038	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	1.000	T
EXOSC10	5394	genome.wustl.edu	37	1	11137657	11137657	+	Splice_Site	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:11137657C>T	ENST00000376936.4	-	15	1850		c.e15+1		EXOSC10_ENST00000544779.1_Missense_Mutation_p.V601I|EXOSC10_ENST00000304457.7_Splice_Site	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10						CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CGACACTCTACCTCAGCACTG	0.532																																					Colon(179;105 1987 14326 27364 29542)												0													82.0	76.0	78.0					1																	11137657		2203	4300	6503	SO:0001630	splice_region_variant	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1800+1G>A	1.37:g.11137657C>T			B1AKQ0|B1AKQ1|Q15158	Splice_Site	SNP	-	e15+1	ENST00000376936.4	37	c.1800+1	CCDS30584.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.049624|3.049624	0.55218|0.55218	.|.	.|.	ENSG00000171824|ENSG00000171824	ENST00000376936;ENST00000304457|ENST00000544779	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53400	.|0.1794	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999981|0.999981	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47898	.|-0.9081	.|4	.|.	.|.	.|.	.|.	17.4879|17.4879	0.87693|0.87693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|601	.|.	.|.	.|V	-|-	.|1	.|0	EXOSC10|EXOSC10	11060244|11060244	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.648000|0.648000	0.38561|0.38561	4.666000|4.666000	0.61554|0.61554	2.430000|2.430000	0.82344|0.82344	0.563000|0.563000	0.77884|0.77884	.|GTA	EXOSC10	-	-	ENSG00000171824		0.532	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1		0.00	25	0	C	NM_001001998	Intron	11137657	-1			no_errors	ENST00000376936	ensembl	human	known	74_37	splice_site	10.26	35	4	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139180219	139180219	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:139180219C>T	ENST00000395297.1	-	12	1347	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	393										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCACTCTGCAGGCAGCGGG	0.582										HNSCC(54;0.14)																																							0													112.0	119.0	117.0					8																	139180219		2091	4221	6312	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1177G>A	8.37:g.139180219C>T	ENSP00000378710:p.Ala393Thr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.A393T	ENST00000395297.1	37	c.1177	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183208	0.78677	.	.	ENSG00000147724	ENST00000395297	D	0.89485	-2.52	5.66	5.66	0.87406	.	0.129021	0.52532	D	0.000070	D	0.90916	0.7145	M	0.67953	2.075	0.36041	D	0.840093	D	0.76494	0.999	P	0.54815	0.761	D	0.92161	0.5736	10	0.41790	T	0.15	-17.7183	12.0775	0.53652	0.0:0.9206:0.0:0.0794	.	393	Q49AJ0	F135B_HUMAN	T	393	ENSP00000378710:A393T	ENSP00000276737:A393T	A	-	1	0	FAM135B	139249401	0.998000	0.40836	0.883000	0.34634	0.519000	0.34347	4.101000	0.57769	2.824000	0.97209	0.655000	0.94253	GCA	FAM135B	-	NULL	ENSG00000147724		0.582	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	43	0	C	NM_015912		139180219	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.958	T
FAM178A	55719	genome.wustl.edu	37	10	102721632	102721632	+	Splice_Site	SNP	A	A	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:102721632A>T	ENST00000238961.4	+	20	4028		c.e20-1			NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A							chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TCCCTTTTTTAGGGGCAGCTT	0.348																																																	0													84.0	84.0	84.0					10																	102721632		2203	4300	6503	SO:0001630	splice_region_variant	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3487-1A>T	10.37:g.102721632A>T			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Splice_Site	SNP	-	e20-2	ENST00000238961.4	37	c.3487-2	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814707	0.70912	.	.	ENSG00000119906	ENST00000238961	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9575	0.58438	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM178A	102711622	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.665000	0.61547	2.371000	0.80710	0.533000	0.62120	.	FAM178A	-	-	ENSG00000119906		0.348	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0.00	35	0	A		Intron	102721632	+1	tier1	-	no_errors	ENST00000238961	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T
FAM189A1	23359	genome.wustl.edu	37	15	29421029	29421029	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:29421029G>T	ENST00000261275.4	-	8	965	c.966C>A	c.(964-966)tcC>tcA	p.S322S		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	322	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TTGGGTCCCCGGAGCTGGACT	0.547																																																	0													55.0	58.0	57.0					15																	29421029		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.966C>A	15.37:g.29421029G>T			A0PK09	Silent	SNP	pfam_CD20-like	p.S322	ENST00000261275.4	37	c.966	CCDS45198.1	15																																																																																			FAM189A1	-	NULL	ENSG00000104059		0.547	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1		0.00	71	0	G	NM_015307		29421029	-1			no_errors	ENST00000261275	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.992	T
FAM86DP	692099	genome.wustl.edu	37	3	75471400	75471400	+	RNA	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:75471400C>T	ENST00000459803.1	-	0	1741					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGCCAGAAGCTGAAATGACG	0.577																																																	0																																												0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471400C>T				RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.577	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1		0.00	9	0	C	NR_024241		75471400	-1			no_errors	ENST00000459803	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.001	T
FAM91A1	157769	genome.wustl.edu	37	8	124790951	124790951	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:124790951A>G	ENST00000334705.7	+	6	734	c.488A>G	c.(487-489)gAa>gGa	p.E163G	FAM91A1_ENST00000521166.1_Missense_Mutation_p.E163G	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	163										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGCCAGTGGAAATTGCCATA	0.373																																																	0													50.0	47.0	48.0					8																	124790951		1831	4082	5913	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.488A>G	8.37:g.124790951A>G	ENSP00000335082:p.Glu163Gly		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.E163G	ENST00000334705.7	37	c.488	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	A	16.62	3.172931	0.57584	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47177	0.85;1.43	5.63	5.63	0.86233	.	0.061395	0.64402	U	0.000007	T	0.61862	0.2381	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.58216	-0.7675	10	0.32370	T	0.25	.	14.719	0.69291	1.0:0.0:0.0:0.0	.	163;163	E7ER68;Q658Y4	.;F91A1_HUMAN	G	163	ENSP00000429491:E163G;ENSP00000335082:E163G	ENSP00000335082:E163G	E	+	2	0	FAM91A1	124860132	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.304000	0.78882	2.281000	0.76405	0.533000	0.62120	GAA	FAM91A1	-	NULL	ENSG00000176853		0.373	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	-	0.00	91	0	A	NM_144963		124790951	+1	tier1	-	no_errors	ENST00000334705	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	G
FANCA	2175	genome.wustl.edu	37	16	89837003	89837003	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:89837003T>C	ENST00000389301.3	-	24	2221	c.2191A>G	c.(2191-2193)Atg>Gtg	p.M731V	FANCA_ENST00000568369.1_Missense_Mutation_p.M731V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	731					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGGCAGCCATCAGGTTCTGA	0.637			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													59.0	44.0	49.0					16																	89837003		2198	4299	6497	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2191A>G	16.37:g.89837003T>C	ENSP00000373952:p.Met731Val		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.M731V	ENST00000389301.3	37	c.2191	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	T	7.044	0.563098	0.13498	.	.	ENSG00000187741	ENST00000389301	D	0.84070	-1.8	4.9	3.73	0.42828	.	0.125717	0.49305	D	0.000152	T	0.77136	0.4086	L	0.60455	1.87	0.18873	N	0.999987	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.67082	-0.5760	10	0.49607	T	0.09	-23.6825	6.6297	0.22849	0.0:0.1284:0.0:0.8716	.	731;731	B4DRI7;O15360	.;FANCA_HUMAN	V	731	ENSP00000373952:M731V	ENSP00000373952:M731V	M	-	1	0	FANCA	88364504	0.030000	0.19436	0.019000	0.16419	0.505000	0.33919	0.653000	0.24902	0.751000	0.32900	0.454000	0.30748	ATG	FANCA	-	NULL	ENSG00000187741		0.637	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	-	0.00	90	0	T			89837003	-1	tier1	-	no_errors	ENST00000389301	ensembl	human	known	74_37	missense	5.21	91	5	SNP	0.040	C
FAT1	2195	genome.wustl.edu	37	4	187629096	187629096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:187629096delG	ENST00000441802.2	-	2	2095	c.1886delC	c.(1885-1887)tcgfs	p.S629fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	629	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCATTAGCGATCGCTTTAA	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													84.0	78.0	80.0					4																	187629096		1878	4098	5976	SO:0001589	frameshift_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1886delC	4.37:g.187629096delG	ENSP00000406229:p.Ser629fs			Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S629fs	ENST00000441802.2	37	c.1886	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0.00	75	0	G	NM_005245		187629096	-1	tier1		no_errors	ENST00000441802	ensembl	human	known	74_37	frame_shift_del	27.03	54	20	DEL	0.998	-
FAT3	120114	genome.wustl.edu	37	11	92531258	92531258	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:92531258C>G	ENST00000298047.6	+	9	5096	c.5079C>G	c.(5077-5079)atC>atG	p.I1693M	FAT3_ENST00000409404.2_Missense_Mutation_p.I1693M|FAT3_ENST00000525166.1_Missense_Mutation_p.I1543M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1693	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTCTAATCTCTGCCATCA	0.393										TCGA Ovarian(4;0.039)																																							0													114.0	114.0	114.0					11																	92531258		1951	4138	6089	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5079C>G	11.37:g.92531258C>G	ENSP00000298047:p.Ile1693Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1693M	ENST00000298047.6	37	c.5079		11	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772797	0.49680	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.93	4.04	0.47022	.	.	.	.	.	T	0.37758	0.1015	L	0.45137	1.4	0.80722	D	1	P	0.48089	0.905	B	0.39419	0.299	T	0.25779	-1.0122	9	0.87932	D	0	.	9.5051	0.39042	0.0:0.676:0.0:0.324	.	1693	Q8TDW7-3	.	M	1693;1693;1543	ENSP00000298047:I1693M;ENSP00000387040:I1693M;ENSP00000432586:I1543M	ENSP00000298047:I1693M	I	+	3	3	FAT3	92170906	0.245000	0.23899	0.998000	0.56505	0.992000	0.81027	-0.381000	0.07417	0.828000	0.34709	0.591000	0.81541	ATC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.393	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	38	0	C	NM_001008781		92531258	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.998	G
FAT4	79633	genome.wustl.edu	37	4	126242539	126242539	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:126242539G>T	ENST00000394329.3	+	1	4986	c.4973G>T	c.(4972-4974)gGa>gTa	p.G1658V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1658	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCCCCAGAGGATCTGAGGCC	0.408																																																	0													82.0	84.0	83.0					4																	126242539		1847	4080	5927	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4973G>T	4.37:g.126242539G>T	ENSP00000377862:p.Gly1658Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G1658V	ENST00000394329.3	37	c.4973	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076556	0.55753	.	.	ENSG00000196159	ENST00000394329	T	0.51574	0.7	4.49	4.49	0.54785	Cadherin (3);Cadherin-like (1);	0.000000	0.34200	U	0.004164	T	0.63733	0.2536	M	0.88377	2.95	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.72874	-0.4160	10	0.62326	D	0.03	.	13.9678	0.64221	0.0:0.1524:0.8476:0.0	.	1658	Q6V0I7	FAT4_HUMAN	V	1658	ENSP00000377862:G1658V	ENSP00000377862:G1658V	G	+	2	0	FAT4	126461989	1.000000	0.71417	0.872000	0.34217	0.899000	0.52679	7.469000	0.80959	2.345000	0.79718	0.650000	0.86243	GGA	FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	88	0	G	NM_024582		126242539	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.998	T
FBXO7	25793	genome.wustl.edu	37	22	32875073	32875073	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:32875073G>T	ENST00000266087.7	+	2	555	c.228G>T	c.(226-228)ttG>ttT	p.L76F	FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	76	Ubiquitin-like.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATATGTTTGATTCTTCAAG	0.428																																																	0													226.0	226.0	226.0					22																	32875073		2203	4300	6503	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.228G>T	22.37:g.32875073G>T	ENSP00000266087:p.Leu76Phe		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L76F	ENST00000266087.7	37	c.228	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614799	0.66672	.	.	ENSG00000100225	ENST00000266087	T	0.61040	0.14	5.45	3.36	0.38483	.	0.134314	0.49305	D	0.000142	T	0.64962	0.2646	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.62849	-0.6767	10	0.42905	T	0.14	-12.5071	9.0136	0.36157	0.1874:0.0:0.8126:0.0	.	76	Q9Y3I1	FBX7_HUMAN	F	76	ENSP00000266087:L76F	ENSP00000266087:L76F	L	+	3	2	FBXO7	31205073	0.923000	0.31300	0.999000	0.59377	0.992000	0.81027	1.301000	0.33447	2.553000	0.86117	0.555000	0.69702	TTG	FBXO7	-	NULL	ENSG00000100225		0.428	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0.00	53	0	G			32875073	+1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.870	T
FGF23	8074	genome.wustl.edu	37	12	4479523	4479523	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:4479523C>T	ENST00000237837.1	-	3	887	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	248					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ATGAACTTGGCGAAGGGGCGG	0.632																																																	0													60.0	67.0	64.0					12																	4479523		2203	4300	6503	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.742G>A	12.37:g.4479523C>T	ENSP00000237837:p.Ala248Thr		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A248T	ENST00000237837.1	37	c.742	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728540	0.89390	.	.	ENSG00000118972	ENST00000237837	T	0.80123	-1.34	4.58	4.58	0.56647	.	0.000000	0.52532	D	0.000063	T	0.63498	0.2516	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.58451	-0.7634	10	0.87932	D	0	0.1529	10.6781	0.45797	0.0:0.1937:0.8063:0.0	.	248	Q9GZV9	FGF23_HUMAN	T	248	ENSP00000237837:A248T	ENSP00000237837:A248T	A	-	1	0	FGF23	4349784	0.994000	0.37717	0.052000	0.19188	0.152000	0.21847	1.913000	0.39956	1.146000	0.42352	-0.232000	0.12228	GCC	FGF23	-	NULL	ENSG00000118972		0.632	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0.00	69	0	C			4479523	-1	tier1	-	no_errors	ENST00000237837	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.030	T
FGR	2268	genome.wustl.edu	37	1	27942244	27942244	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:27942244A>G	ENST00000374005.3	-	8	1082	c.794T>C	c.(793-795)cTg>cCg	p.L265P	FGR_ENST00000399173.1_Missense_Mutation_p.L265P|FGR_ENST00000374004.1_Missense_Mutation_p.L265P|FGR_ENST00000545953.1_Missense_Mutation_p.L199P	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGCGCTCCAGCGTGATGGA	0.711																																																	0													13.0	16.0	15.0					1																	27942244		2192	4295	6487	SO:0001583	missense	0			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.794T>C	1.37:g.27942244A>G	ENSP00000363117:p.Leu265Pro		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L265P	ENST00000374005.3	37	c.794	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385957	0.82902	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;T;D;D;D;D	0.84730	-1.89;1.59;-1.89;-1.89;-1.89;-1.89	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000247	D	0.92808	0.7713	M	0.88704	2.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	D	0.94063	0.7328	10	0.87932	D	0	.	13.5589	0.61777	1.0:0.0:0.0:0.0	.	265	P09769	FGR_HUMAN	P	265;199;265;265;265;265	ENSP00000363117:L265P;ENSP00000445302:L199P;ENSP00000382126:L265P;ENSP00000363116:L265P;ENSP00000363115:L265P;ENSP00000407670:L265P	ENSP00000363115:L265P	L	-	2	0	FGR	27814831	1.000000	0.71417	0.039000	0.18376	0.984000	0.73092	9.334000	0.96470	2.029000	0.59856	0.459000	0.35465	CTG	FGR	-	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	ENSG00000000938		0.711	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	-	0.00	38	0	A	NM_005248		27942244	-1	tier1	-	no_errors	ENST00000374003	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.816	G
FNDC1	84624	genome.wustl.edu	37	6	159621085	159621085	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:159621085G>A	ENST00000297267.9	+	3	562	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R121H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	121	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTGAGCCGTCCTGTTTAC	0.478																																																	0													86.0	86.0	86.0					6																	159621085		1947	4140	6087	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.362G>A	6.37:g.159621085G>A	ENSP00000297267:p.Arg121His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R121H	ENST00000297267.9	37	c.362	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918618	0.73098	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085770	0.50627	D	0.000113	T	0.48132	0.1483	N	0.14661	0.345	0.32908	D	0.51417	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57260	-0.7842	10	0.62326	D	0.03	-13.9375	15.8813	0.79207	0.0:0.0:1.0:0.0	.	121;121	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	121	ENSP00000297267:R121H;ENSP00000342460:R121H	ENSP00000297267:R121H	R	+	2	0	FNDC1	159541073	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	2.445000	0.44899	2.821000	0.97095	0.650000	0.86243	CGT	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.478	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	100	0	G	NM_032532		159621085	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.986	A
FRMPD3	84443	genome.wustl.edu	37	X	106841057	106841059	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:106841057_106841059delGAG	ENST00000276185.4	+	15	2047_2049	c.2047_2049delGAG	c.(2047-2049)gagdel	p.E689del				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	689	Poly-Glu.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACCTGGGAGTgaggaggaggagg	0.567																																																	0										335,2014		59,101,116,836,241						-0.1	1.0			9	594,3667		10,384,190,1224,835	no	coding	FRMPD3	XM_042978.7		69,485,306,2060,1076	A1A1,A1R,A1,RR,R		13.9404,14.2614,14.0545				929,5681				SO:0001651	inframe_deletion	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2047_2049delGAG	X.37:g.106841066_106841068delGAG	ENSP00000276185:p.Glu689del		Q96JK8	In_Frame_Del	DEL	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.E686in_frame_del	ENST00000276185.4	37	c.2047_2049		X																																																																																			FRMPD3	-	NULL	ENSG00000147234		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding			0.00	23	0	GAG	XM_042978		106841059	+1	tier1		no_errors	ENST00000276185	ensembl	human	known	74_37	in_frame_del	18.75	26	6	DEL	1.000:1.000:1.000	-
FUT9	10690	genome.wustl.edu	37	6	96651510	96651510	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:96651510G>A	ENST00000302103.5	+	3	805	c.479G>A	c.(478-480)cGt>cAt	p.R160H		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	160					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACTTACCGCCGTGATTCAGAT	0.458																																					Melanoma(98;1369 1476 6592 22940 26587)												0													67.0	64.0	65.0					6																	96651510		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.479G>A	6.37:g.96651510G>A	ENSP00000302599:p.Arg160His		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R160H	ENST00000302103.5	37	c.479	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426108	0.43020	.	.	ENSG00000172461	ENST00000302103	T	0.28666	1.6	5.3	5.3	0.74995	.	0.113468	0.64402	D	0.000007	T	0.28499	0.0705	M	0.61703	1.905	0.47407	D	0.999412	P	0.38565	0.637	B	0.43680	0.427	T	0.02226	-1.1192	10	0.28530	T	0.3	-11.0544	18.3049	0.90177	0.0:0.0:1.0:0.0	.	160	Q9Y231	FUT9_HUMAN	H	160	ENSP00000302599:R160H	ENSP00000302599:R160H	R	+	2	0	FUT9	96758231	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	4.810000	0.62598	2.643000	0.89663	0.655000	0.94253	CGT	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.458	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	-	0.00	48	0	G	NM_006581		96651510	+1	tier1	-	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.950	A
LYPLA2	11313	genome.wustl.edu	37	1	24124733	24124733	+	IGR	SNP	C	C	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:24124733C>G	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Intron|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCAGGGGTGACATGGCCAGAG	0.522																																																	0													27.0	28.0	28.0					1																	24124733		2202	4300	6502	SO:0001628	intergenic_variant	0			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124733C>G			Q7Z4Z2	RNA	SNP	-	NULL	ENST00000374514.3	37	NULL	CCDS241.1	1																																																																																			GALE	-	-	ENSG00000117308		0.522	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALE	HGNC	protein_coding	OTTHUMT00000008245.1	-	0.00	56	0	C			24124733	-1	tier1	-	no_errors	ENST00000467493	ensembl	human	known	74_37	rna	45.05	50	41	SNP	0.000	G
GDPD1	284161	genome.wustl.edu	37	17	57334523	57334523	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:57334523G>T	ENST00000284116.4	+	5	545	c.408G>T	c.(406-408)ctG>ctT	p.L136L	GDPD1_ENST00000581140.1_Silent_p.L136L|GDPD1_ENST00000581276.1_Silent_p.L136L	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	136	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTCCATTACTGAAGGAAGTTT	0.348																																																	0													149.0	132.0	138.0					17																	57334523		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.408G>T	17.37:g.57334523G>T			A8W735|Q56VR1|Q8N4E3	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L136	ENST00000284116.4	37	c.408	CCDS11616.1	17																																																																																			GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.348	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	-	0.00	121	0	G	NM_182569		57334523	+1	tier1	-	no_errors	ENST00000284116	ensembl	human	known	74_37	silent	5.04	113	6	SNP	1.000	T
GIF	2694	genome.wustl.edu	37	11	59604768	59604768	+	Silent	SNP	C	C	T	rs377432418		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:59604768C>T	ENST00000257248.2	-	6	797	c.750G>A	c.(748-750)acG>acA	p.T250T	GIF_ENST00000541311.1_Silent_p.T225T	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	250					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GTATCATATCCGTAGTCTTCT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		24617	0.0		0.0	False		,,,				2504	0.001				NSCLC(53;1139 1245 16872 38474 42853)												0								C		0,4402		0,0,2201	222.0	201.0	208.0		750	5.7	0.7	11		208	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	GIF	NM_005142.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		250/418	59604768	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.750G>A	11.37:g.59604768C>T			B2RAN8|B4DVZ1	Silent	SNP	pfam_Cbl-bd_transpt_euk	p.T250	ENST00000257248.2	37	c.750	CCDS7977.1	11																																																																																			GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.443	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0.00	89	0	C	NM_005142		59604768	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	silent	16.00	84	16	SNP	0.969	T
GOLGA8DP	100132979	genome.wustl.edu	37	15	22705501	22705501	+	RNA	DEL	C	C	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:22705501delC	ENST00000314246.8	-	0	2006				RN7SL545P_ENST00000495815.2_RNA|AC116165.1_ENST00000408073.1_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TCACAAAGATCTTTGGAGAGA	0.632																																																	0																																												0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22705501delC				Splice_Site	DEL	-	NULL	ENST00000314246.8	37	c.NULL		15																																																																																			GOLGA8DP	-	-	ENSG00000185182		0.632	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1		0.00	12	0	C	NR_027407		22705501	-1	tier1		no_errors	ENST00000314246	ensembl	human	known	74_37	splice_site_del	57.14	6	8	DEL	0.006	-
HBE1	3046	genome.wustl.edu	37	11	5290891	5290891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:5290891G>T	ENST00000380237.1	-	4	452	c.108C>A	c.(106-108)taC>taA	p.Y36*	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Nonsense_Mutation_p.Y36*			P02100	HBE_HUMAN	hemoglobin, epsilon 1	36					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTCCAGGGGTAAACAACGA	0.453																																																	0													60.0	61.0	61.0					11																	5290891		2201	4297	6498	SO:0001587	stop_gained	0			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.108C>A	11.37:g.5290891G>T	ENSP00000369586:p.Tyr36*		Q6FH44	Nonsense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.Y36*	ENST00000380237.1	37	c.108	CCDS7756.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.889461	0.97068	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	.	.	.	6.02	-1.32	0.09201	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.94	11.0921	0.48121	0.5357:0.0:0.4643:0.0	.	.	.	.	X	36	.	ENSP00000292896:Y36X	Y	-	3	2	HBE1	5247467	1.000000	0.71417	0.988000	0.46212	0.781000	0.44180	0.996000	0.29719	-0.230000	0.09840	-0.147000	0.13772	TAC	HBE1	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000213931		0.453	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBE1	HGNC	protein_coding	OTTHUMT00000142973.2	-	0.00	57	0	G	NM_005330		5290891	-1	tier1	-	no_errors	ENST00000292896	ensembl	human	known	74_37	nonsense	26.19	31	11	SNP	0.998	T
HBP1	26959	genome.wustl.edu	37	7	106822898	106822898	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:106822898C>A	ENST00000222574.4	+	3	436	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	HBP1_ENST00000468410.1_Missense_Mutation_p.Q84K|HBP1_ENST00000485846.1_Missense_Mutation_p.Q84K	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	84					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGTTTCACATCAAGAATACCC	0.418																																																	0													104.0	91.0	96.0					7																	106822898		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.250C>A	7.37:g.106822898C>A	ENSP00000222574:p.Gln84Lys		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.Q84K	ENST00000222574.4	37	c.250	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504258	0.85176	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99239	-5.61;-5.61;-5.61	5.86	5.86	0.93980	.	0.093760	0.85682	D	0.000000	D	0.98356	0.9454	L	0.27053	0.805	0.80722	D	1	P;P;P	0.52316	0.462;0.952;0.919	B;P;P	0.50860	0.173;0.652;0.45	D	0.99712	1.1007	10	0.72032	D	0.01	-7.4954	20.1865	0.98220	0.0:1.0:0.0:0.0	.	94;84;84	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	K	84;84;84;84;84;84;76	ENSP00000420500:Q84K;ENSP00000222574:Q84K;ENSP00000418738:Q84K	ENSP00000222574:Q84K	Q	+	1	0	HBP1	106610134	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.464000	0.66719	2.775000	0.95449	0.655000	0.94253	CAA	HBP1	-	NULL	ENSG00000105856		0.418	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0.00	86	0	C	NM_012257		106822898	+1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	A
HCFC1R1	54985	genome.wustl.edu	37	16	3073311	3073311	+	Silent	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:3073311G>A	ENST00000248089.3	-	3	508	c.204C>T	c.(202-204)ttC>ttT	p.F68F	THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000354679.3_Silent_p.F66F|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|HCFC1R1_ENST00000396916.1_Silent_p.F68F|HCFC1R1_ENST00000572355.1_Silent_p.F28F|HCFC1R1_ENST00000574980.1_Silent_p.F68F|HCFC1R1_ENST00000574151.1_Silent_p.F49F	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						TGAGTTGAGAGAAGTGGGTGG	0.617																																																	0													108.0	110.0	110.0					16																	3073311		2198	4300	6498	SO:0001819	synonymous_variant	0			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.204C>T	16.37:g.3073311G>A			D3DUA7|Q68EN7	Silent	SNP	NULL	p.F68	ENST00000248089.3	37	c.204	CCDS10490.1	16																																																																																			HCFC1R1	-	NULL	ENSG00000103145		0.617	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	HCFC1R1	HGNC	protein_coding	OTTHUMT00000436969.1	-	0.00	30	0	G	NM_017885		3073311	-1	tier1	-	no_errors	ENST00000248089	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3184082	3184082	+	Splice_Site	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:3184082T>C	ENST00000355072.5	+	37	4896	c.4751T>C	c.(4750-4752)gTg>gCg	p.V1584A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1584					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTTATAGGTGTTGGAGATG	0.493																																																	0													116.0	115.0	115.0					4																	3184082		2012	4175	6187	SO:0001630	splice_region_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4750-1T>C	4.37:g.3184082T>C			Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.V1584A	ENST00000355072.5	37	c.4751	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538497	0.85917	.	.	ENSG00000197386	ENST00000355072	T	0.10477	2.87	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.76328	2.33	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.03840	-1.0999	10	0.62326	D	0.03	.	13.0237	0.58802	0.0:0.0:0.0:1.0	.	1584	P42858	HD_HUMAN	A	1584	ENSP00000347184:V1584A	ENSP00000347184:V1584A	V	+	2	0	HTT	3153880	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.836000	0.86788	2.005000	0.58758	0.455000	0.32223	GTG	HTT	-	NULL	ENSG00000197386		0.493	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0.00	63	0	T	NM_002111	Missense_Mutation	3184082	+1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	C
IKBKAP	8518	genome.wustl.edu	37	9	111688831	111688831	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:111688831C>T	ENST00000374647.5	-	5	745	c.438G>A	c.(436-438)caG>caA	p.Q146Q	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	146					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						GATGGATCTGCTGCTCCAGGA	0.353																																																	0													140.0	124.0	130.0					9																	111688831		2203	4300	6503	SO:0001819	synonymous_variant	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.438G>A	9.37:g.111688831C>T			Q5JSV2|Q9H327|Q9UG87	Silent	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.Q146	ENST00000374647.5	37	c.438	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.353	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0.00	78	0	C			111688831	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.955	T
IL1B	3553	genome.wustl.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:113591100C>T	ENST00000263341.2	-	4	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	51					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.R51Q(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GTCGGAGATTCGTAGCTGGAT	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											100.0	94.0	96.0					2																	113591100		2203	4300	6503	SO:0001583	missense	0			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.152G>A	2.37:g.113591100C>T	ENSP00000263341:p.Arg51Gln		Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36	p.R51Q	ENST00000263341.2	37	c.152	CCDS2102.1	2	.	.	.	.	.	.	.	.	.	.	C	1.023	-0.684356	0.03353	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.72	0.872	0.19113	Interleukin-1 propeptide (1);	0.810801	0.11915	N	0.517278	T	0.09774	0.0240	N	0.00395	-1.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35025	-0.9805	10	0.02654	T	1	-0.5004	6.853	0.24024	0.0:0.2849:0.0:0.7151	.	51	P01584	IL1B_HUMAN	Q	51	ENSP00000263341:R51Q;ENSP00000407219:R51Q;ENSP00000409680:R51Q;ENSP00000400854:R51Q	ENSP00000263341:R51Q	R	-	2	0	IL1B	113307571	0.040000	0.19996	0.031000	0.17742	0.013000	0.08279	0.695000	0.25527	0.067000	0.16545	-1.300000	0.01332	CGA	IL1B	-	pfam_IL-1_propep,prints_IL-1_beta	ENSG00000125538		0.627	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1B	HGNC	protein_coding	OTTHUMT00000254125.2		0.00	31	0	C	NM_000576		113591100	-1			no_errors	ENST00000263341	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.024	T
IL1RAPL2	26280	genome.wustl.edu	37	X	105011645	105011645	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:105011645T>G	ENST00000372582.1	+	11	2808	c.2052T>G	c.(2050-2052)gaT>gaG	p.D684E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D684E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	684					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTACCAGTGATATTTGGTAGT	0.378																																																	0													71.0	71.0	71.0					X																	105011645		2203	4299	6502	SO:0001583	missense	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.2052T>G	X.37:g.105011645T>G	ENSP00000361663:p.Asp684Glu		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.D684E	ENST00000372582.1	37	c.2052	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	T	9.807	1.182190	0.21787	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04809	3.85;3.85;3.55	5.83	2.18	0.27775	.	0.000000	0.64402	D	0.000001	T	0.04907	0.0132	L	0.60455	1.87	0.51233	D	0.999914	P	0.44690	0.841	B	0.39465	0.3	T	0.48422	-0.9037	10	0.09338	T	0.73	.	8.4941	0.33117	0.0:0.226:0.0:0.774	.	684	Q9NP60	IRPL2_HUMAN	E	684;684;289	ENSP00000361663:D684E;ENSP00000344976:D684E;ENSP00000445576:D289E	ENSP00000344976:D684E	D	+	3	2	IL1RAPL2	104898301	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	0.880000	0.28159	0.022000	0.15160	-0.335000	0.08231	GAT	IL1RAPL2	-	NULL	ENSG00000189108		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	-	0.00	11	0	T	NM_017416		105011645	+1	tier1	-	no_errors	ENST00000344799	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	G
IL1RL2	8808	genome.wustl.edu	37	2	102835498	102835498	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:102835498G>T	ENST00000264257.2	+	7	936	c.810G>T	c.(808-810)gtG>gtT	p.V270V	IL1RL2_ENST00000441515.2_Silent_p.V152V|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.V270V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	270	Ig-like C2-type 3.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACACTTTGGTGGATGATTACT	0.388																																																	0													188.0	167.0	174.0					2																	102835498		2203	4300	6503	SO:0001819	synonymous_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.810G>T	2.37:g.102835498G>T			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.V270	ENST00000264257.2	37	c.810	CCDS2056.1	2																																																																																			IL1RL2	-	smart_Ig_sub	ENSG00000115598		0.388	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	-	0.00	70	0	G	NM_003854		102835498	+1	tier1	-	no_errors	ENST00000264257	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.694	T
IL6ST	3572	genome.wustl.edu	37	5	55256372	55256372	+	Silent	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:55256372T>A	ENST00000381298.2	-	8	1143	c.831A>T	c.(829-831)acA>acT	p.T277T	IL6ST_ENST00000536319.1_Silent_p.T277T|IL6ST_ENST00000336909.5_Silent_p.T277T|IL6ST_ENST00000502326.3_Silent_p.T277T|IL6ST_ENST00000381293.2_Silent_p.T111T|IL6ST_ENST00000381294.3_Silent_p.T277T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Silent_p.T277T|IL6ST_ENST00000522633.2_Silent_p.T277T	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	277	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGGTGGATGCTGTGTCTTCAG	0.363			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													96.0	86.0	89.0					5																	55256372		2203	4300	6503	SO:0001819	synonymous_variant	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.831A>T	5.37:g.55256372T>A			A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T277	ENST00000381298.2	37	c.831	CCDS3971.1	5																																																																																			IL6ST	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.363	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0.00	51	0	T	NM_002184		55256372	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	silent	21.67	47	13	SNP	0.997	A
IQUB	154865	genome.wustl.edu	37	7	123150076	123150076	+	Silent	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:123150076A>G	ENST00000466202.1	-	3	987	c.411T>C	c.(409-411)ctT>ctC	p.L137L	IQUB_ENST00000324698.6_Silent_p.L137L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.L137L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	137	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CCACTGGAATAAGTACAACTT	0.313																																																	0													81.0	94.0	90.0					7																	123150076		2202	4289	6491	SO:0001819	synonymous_variant	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.411T>C	7.37:g.123150076A>G			A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L137	ENST00000466202.1	37	c.411	CCDS5787.1	7																																																																																			IQUB	-	pfscan_Ubiquitin_supergroup	ENSG00000164675		0.313	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	-	0.00	149	0	A	NM_178827		123150076	-1	tier1	-	no_errors	ENST00000324698	ensembl	human	known	74_37	silent	31.25	88	40	SNP	0.993	G
ITPKC	80271	genome.wustl.edu	37	19	41239217	41239217	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:41239217G>T	ENST00000263370.2	+	4	1655	c.1622G>T	c.(1621-1623)aGg>aTg	p.R541M		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	541	Substrate binding.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGCAGTGGAGGGAAACCATG	0.622																																																	0													47.0	41.0	43.0					19																	41239217		2203	4300	6503	SO:0001583	missense	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1622G>T	19.37:g.41239217G>T	ENSP00000263370:p.Arg541Met		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.R541M	ENST00000263370.2	37	c.1622	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855091	0.71719	.	.	ENSG00000086544	ENST00000263370	T	0.19532	2.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70378	-0.4888	10	0.87932	D	0	-28.6177	18.3444	0.90317	0.0:0.0:1.0:0.0	.	541	Q96DU7	IP3KC_HUMAN	M	541	ENSP00000263370:R541M	ENSP00000263370:R541M	R	+	2	0	ITPKC	45931057	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.812000	0.99227	2.693000	0.91896	0.644000	0.83932	AGG	ITPKC	-	pfam_IPK	ENSG00000086544		0.622	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0.00	55	0	G	NM_025194		41239217	+1			no_errors	ENST00000263370	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
JMJD1C	221037	genome.wustl.edu	37	10	64958355	64958355	+	Silent	SNP	T	T	C	rs201595819		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:64958355T>C	ENST00000399262.2	-	12	5627	c.5409A>G	c.(5407-5409)aaA>aaG	p.K1803K	JMJD1C_ENST00000402544.1_Silent_p.K1584K|JMJD1C_ENST00000542921.1_Silent_p.K1621K|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1803					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAAGATATATTTAGAAGTCT	0.323																																																	0								T	,	0,3632		0,0,1816	123.0	122.0	122.0		4752,5409	2.7	1.0	10		122	2,8134		0,2,4066	no	coding-synonymous,coding-synonymous	JMJD1C	NM_004241.2,NM_032776.1	,	0,2,5882	CC,CT,TT		0.0246,0.0,0.017	,	1584/2304,1803/2541	64958355	2,11766	1816	4068	5884	SO:0001819	synonymous_variant	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5409A>G	10.37:g.64958355T>C			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K1803	ENST00000399262.2	37	c.5409	CCDS41532.1	10																																																																																			JMJD1C	-	NULL	ENSG00000171988		0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2		0.00	30	0	T	NM_004241		64958355	-1			no_errors	ENST00000399262	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	C
KAT6A	7994	genome.wustl.edu	37	8	41836223	41836223	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:41836223A>G	ENST00000396930.3	-	7	1523	c.980T>C	c.(979-981)aTa>aCa	p.I327T	KAT6A_ENST00000485568.1_Missense_Mutation_p.I327T|KAT6A_ENST00000406337.1_Missense_Mutation_p.I327T|KAT6A_ENST00000265713.2_Missense_Mutation_p.I327T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	327	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCGCCGTTTTATCTGTGCTGC	0.378																																																	0													307.0	297.0	300.0					8																	41836223		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.980T>C	8.37:g.41836223A>G	ENSP00000380136:p.Ile327Thr		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I327T	ENST00000396930.3	37	c.980	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557046	0.45590	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.1;0.1;0.1;-1.91	5.47	5.47	0.80525	.	0.131736	0.52532	D	0.000078	D	0.88768	0.6526	L	0.38175	1.15	0.49582	D	0.999805	P;D	0.76494	0.911;0.999	P;D	0.78314	0.5;0.991	D	0.89917	0.4056	10	0.66056	D	0.02	-9.2762	15.6307	0.76906	1.0:0.0:0.0:0.0	.	327;327	A5PLL3;Q92794	.;KAT6A_HUMAN	T	327	ENSP00000265713:I327T;ENSP00000385888:I327T;ENSP00000380136:I327T;ENSP00000430606:I327T	ENSP00000265713:I327T	I	-	2	0	KAT6A	41955380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	2.081000	0.62600	0.524000	0.50904	ATA	KAT6A	-	superfamily_Znf_FYVE_PHD	ENSG00000083168		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0.00	71	0	A	NM_006766		41836223	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	19.83	92	23	SNP	1.000	G
KCNA5	3741	genome.wustl.edu	37	12	5154910	5154910	+	Missense_Mutation	SNP	G	G	T	rs540903138		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:5154910G>T	ENST00000252321.3	+	1	1826	c.1597G>T	c.(1597-1599)Gca>Tca	p.A533S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	533					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGAGGAGCCGGCAGTCCTTAA	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18823	0.0		0.0	False		,,,				2504	0.0																0													53.0	53.0	53.0					12																	5154910		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1597G>T	12.37:g.5154910G>T	ENSP00000252321:p.Ala533Ser		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A533S	ENST00000252321.3	37	c.1597	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074474	0.36566	.	.	ENSG00000130037	ENST00000252321	D	0.97665	-4.48	4.94	4.94	0.65067	.	0.152198	0.43919	U	0.000519	D	0.95497	0.8537	L	0.58669	1.825	0.36982	D	0.894329	B	0.12013	0.005	B	0.13407	0.009	D	0.94408	0.7629	10	0.31617	T	0.26	.	17.3385	0.87289	0.0:0.0:1.0:0.0	.	533	P22460	KCNA5_HUMAN	S	533	ENSP00000252321:A533S	ENSP00000252321:A533S	A	+	1	0	KCNA5	5025171	0.344000	0.24827	0.898000	0.35279	0.953000	0.61014	0.593000	0.23999	2.563000	0.86464	0.561000	0.74099	GCA	KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0.00	59	0	G	NM_002234		5154910	+1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	T
KDM4B	23030	genome.wustl.edu	37	19	5144079	5144079	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:5144079C>T	ENST00000159111.4	+	19	2870	c.2652C>T	c.(2650-2652)caC>caT	p.H884H	KDM4B_ENST00000536461.1_Silent_p.H918H	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	884					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGCGCCCACGCCGCAGGCG	0.632																																																	0													73.0	70.0	71.0					19																	5144079		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2652C>T	19.37:g.5144079C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.H884	ENST00000159111.4	37	c.2652	CCDS12138.1	19																																																																																			KDM4B	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000127663		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	-	0.00	72	0	C	NM_015015		5144079	+1	tier1	-	no_errors	ENST00000159111	ensembl	human	known	74_37	silent	12.35	71	10	SNP	1.000	T
KIAA0319	9856	genome.wustl.edu	37	6	24569066	24569066	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:24569066C>T	ENST00000378214.3	-	13	2607	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	KIAA0319_ENST00000543707.1_Missense_Mutation_p.V695M|KIAA0319_ENST00000535378.1_Missense_Mutation_p.V686M|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V695M|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V650M	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	695	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGGTCTTTCACTGTCAAACGG	0.547																																																	0													139.0	115.0	124.0					6																	24569066		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2083G>A	6.37:g.24569066C>T	ENSP00000367459:p.Val695Met		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.V695M	ENST00000378214.3	37	c.2083	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907481	0.72868	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	3.82	3.82	0.43975	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.000000	0.50627	D	0.000112	T	0.59088	0.2168	H	0.97051	3.93	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76408	-0.2970	10	0.87932	D	0	-14.8833	15.9176	0.79535	0.0:1.0:0.0:0.0	.	695;686;695	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	M	695;686;650;695;695	ENSP00000439700:V695M;ENSP00000442403:V686M;ENSP00000401086:V650M;ENSP00000367459:V695M;ENSP00000437656:V695M	ENSP00000367459:V695M	V	-	1	0	KIAA0319	24677045	1.000000	0.71417	0.875000	0.34327	0.780000	0.44128	6.140000	0.71738	1.954000	0.56735	0.650000	0.86243	GTG	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.547	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0.00	60	0	C	NM_014809		24569066	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T
KIF11	3832	genome.wustl.edu	37	10	94373310	94373310	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:94373310T>A	ENST00000260731.3	+	8	1056	c.966T>A	c.(964-966)gaT>gaA	p.D322E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	322	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTCCAGGATTCTCTTGGAG	0.418																																					Colon(47;212 1003 2764 4062 8431)												0													73.0	72.0	72.0					10																	94373310		2203	4300	6503	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.966T>A	10.37:g.94373310T>A	ENSP00000260731:p.Asp322Glu		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D322E	ENST00000260731.3	37	c.966	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782110	0.70222	.	.	ENSG00000138160	ENST00000260731	D	0.87650	-2.28	5.62	3.29	0.37713	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	L	0.35487	1.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.36615	T	0.2	.	8.9792	0.35955	0.0:0.2247:0.0:0.7753	.	322	P52732	KIF11_HUMAN	E	322	ENSP00000260731:D322E	ENSP00000260731:D322E	D	+	3	2	KIF11	94363290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.709000	0.25734	0.421000	0.25980	0.482000	0.46254	GAT	KIF11	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138160		0.418	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	-	0.00	111	0	T	NM_004523		94373310	+1	tier1	-	no_errors	ENST00000260731	ensembl	human	known	74_37	missense	17.43	90	19	SNP	1.000	A
KIF16B	55614	genome.wustl.edu	37	20	16474995	16474995	+	Splice_Site	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:16474995C>T	ENST00000354981.2	-	12	1400	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	KIF16B_ENST00000408042.1_Splice_Site_p.V415I|KIF16B_ENST00000355755.3_Splice_Site_p.V415I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	415					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AATTCTTGAACCTGAAAAGAA	0.303																																																	0													94.0	84.0	87.0					20																	16474995		2199	4295	6494	SO:0001630	splice_region_variant	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1243-1G>A	20.37:g.16474995C>T			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V415I	ENST00000354981.2	37	c.1243	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557683	0.65425	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.69040	-0.36;-0.36;-0.37	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	N	0.11651	0.15	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.80764	0.994;0.994;0.994;0.985	T	0.65348	-0.6190	10	0.19147	T	0.46	.	19.5942	0.95527	0.0:1.0:0.0:0.0	.	415;415;415;415	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	415	ENSP00000347076:V415I;ENSP00000347995:V415I;ENSP00000384164:V415I	ENSP00000347076:V415I	V	-	1	0	KIF16B	16422995	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.689000	0.74562	2.707000	0.92482	0.650000	0.86243	GTT	KIF16B	-	NULL	ENSG00000089177		0.303	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0.00	78	0	C	NM_017683	Missense_Mutation	16474995	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	15.70	102	19	SNP	1.000	T
KLB	152831	genome.wustl.edu	37	4	39439377	39439377	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:39439377G>A	ENST00000257408.4	+	3	1464	c.1367G>A	c.(1366-1368)gGt>gAt	p.G456D		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	456	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CGAGTGTTTGGTTATACTGCC	0.398																																																	0													207.0	196.0	200.0					4																	39439377		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1367G>A	4.37:g.39439377G>A	ENSP00000257408:p.Gly456Asp		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G456D	ENST00000257408.4	37	c.1367	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853450	0.91355	.	.	ENSG00000134962	ENST00000257408	T	0.73789	-0.78	5.96	5.96	0.96718	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94588	0.7785	10	0.87932	D	0	-17.5195	20.4084	0.99013	0.0:0.0:1.0:0.0	.	456;456	B7ZL50;Q86Z14	.;KLOTB_HUMAN	D	456	ENSP00000257408:G456D	ENSP00000257408:G456D	G	+	2	0	KLB	39115772	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.852000	0.99516	2.827000	0.97445	0.609000	0.83330	GGT	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000134962		0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	-	0.00	89	0	G	NM_175737		39439377	+1	tier1	-	no_errors	ENST00000257408	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36218097	36218097	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:36218097C>T	ENST00000222270.7	+	15	4044	c.4044C>T	c.(4042-4044)aaC>aaT	p.N1348N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1348N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1348					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGAAGACAACGACTATGAGA	0.557																																																	0													56.0	56.0	56.0					19																	36218097		2147	4276	6423	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4044C>T	19.37:g.36218097C>T			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.N1348	ENST00000222270.7	37	c.4044	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000272333		0.557	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	48	0	C	NM_014727		36218097	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	25.00	36	12	SNP	0.752	T
KPNA7	402569	genome.wustl.edu	37	7	98805040	98805040	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:98805040C>T	ENST00000327442.6	-	1	89	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	17	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						ATCTTTGCCTCGGTACTTAAA	0.488																																																	0													193.0	151.0	163.0					7																	98805040		692	1591	2283	SO:0001583	missense	0				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.50G>A	7.37:g.98805040C>T	ENSP00000330878:p.Arg17Gln		A4D277	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R17Q	ENST00000327442.6	37	c.50	CCDS47651.1	7	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217177	0.58560	.	.	ENSG00000185467	ENST00000327442	T	0.41400	1.0	4.26	3.36	0.38483	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.062767	0.64402	D	0.000009	T	0.56093	0.1962	M	0.71581	2.175	0.25276	N	0.989478	D	0.89917	1.0	D	0.67103	0.949	T	0.44997	-0.9291	10	0.72032	D	0.01	-7.0196	7.0812	0.25231	0.0:0.8804:0.0:0.1196	.	17	A9QM74	IMA8_HUMAN	Q	17	ENSP00000330878:R17Q	ENSP00000330878:R17Q	R	-	2	0	KPNA7	98642976	0.166000	0.22962	0.929000	0.37066	0.354000	0.29330	0.585000	0.23879	2.315000	0.78130	0.555000	0.69702	CGA	KPNA7	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB	ENSG00000185467		0.488	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	-	0.00	58	0	C	NM_001145715		98805040	-1	tier1	-	no_errors	ENST00000327442	ensembl	human	known	74_37	missense	9.60	226	24	SNP	0.910	T
KREMEN1	83999	genome.wustl.edu	37	22	29533368	29533368	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:29533368T>G	ENST00000407188.1	+	6	664	c.664T>G	c.(664-666)Tct>Gct	p.S222A	KREMEN1_ENST00000400338.2_Missense_Mutation_p.S224A|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S224A|KREMEN1_ENST00000400335.4_Missense_Mutation_p.S224A			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	222	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCAGCCATGTCTTCTGTGGT	0.612																																																	0													91.0	94.0	93.0					22																	29533368		1958	4151	6109	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.664T>G	22.37:g.29533368T>G	ENSP00000385431:p.Ser222Ala		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.S224A	ENST00000407188.1	37	c.670	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152672	0.38021	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.14	1.61	0.23674	CUB (5);	0.424659	0.21519	N	0.073242	T	0.16938	0.0407	L	0.59436	1.845	0.32724	N	0.509888	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.002;0.006;0.002	T	0.10870	-1.0611	10	0.27785	T	0.31	.	4.5452	0.12078	0.4861:0.0:0.0929:0.421	.	222;224;224	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	A	224;224;224;222	ENSP00000383189:S224A;ENSP00000383192:S224A;ENSP00000331242:S224A;ENSP00000385431:S222A	ENSP00000331242:S224A	S	+	1	0	KREMEN1	27863368	0.908000	0.30866	0.964000	0.40570	0.987000	0.75469	1.849000	0.39318	0.390000	0.25115	-0.649000	0.03915	TCT	KREMEN1	-	pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183762		0.612	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0.00	54	0	T			29533368	+1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.995	G
LAMB1	3912	genome.wustl.edu	37	7	107570010	107570010	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:107570010A>G	ENST00000222399.6	-	30	4822	c.4592T>C	c.(4591-4593)aTg>aCg	p.M1531T	LAMB1_ENST00000393561.1_Missense_Mutation_p.M1555T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1531	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGCATCTCCATTTTCAATAC	0.403																																																	0													147.0	125.0	133.0					7																	107570010		2203	4300	6503	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4592T>C	7.37:g.107570010A>G	ENSP00000222399:p.Met1531Thr		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.M1531T	ENST00000222399.6	37	c.4592	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998696	0.74818	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.31247	1.5;1.5	5.52	5.52	0.82312	.	.	.	.	.	T	0.42381	0.1200	L	0.56769	1.78	0.80722	D	1	P;D	0.57899	0.761;0.981	B;P	0.51777	0.247;0.679	T	0.18555	-1.0333	9	0.36615	T	0.2	.	15.8169	0.78608	1.0:0.0:0.0:0.0	.	1531;1555	P07942;G3XAI2	LAMB1_HUMAN;.	T	1555;1531	ENSP00000377191:M1555T;ENSP00000222399:M1531T	ENSP00000222399:M1531T	M	-	2	0	LAMB1	107357246	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.757000	0.91657	2.311000	0.77944	0.528000	0.53228	ATG	LAMB1	-	NULL	ENSG00000091136		0.403	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0.00	34	0	A	NM_002291		107570010	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	G
LIG1	3978	genome.wustl.edu	37	19	48630558	48630558	+	Silent	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:48630558G>A	ENST00000263274.7	-	21	2399	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Silent_p.F629F|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Silent_p.F592F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	660					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGATGAGGTCGAAGGCGTACA	0.612								Nucleotide excision repair (NER)																																									0													215.0	155.0	175.0					19																	48630558		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1980C>T	19.37:g.48630558G>A			B2RAI8|Q2TB12|Q32P23	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.F660	ENST00000263274.7	37	c.1980	CCDS12711.1	19																																																																																			LIG1	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000105486		0.612	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	-	0.00	51	0	G	NM_000234		48630558	-1	tier1	-	no_errors	ENST00000263274	ensembl	human	known	74_37	silent	52.70	35	39	SNP	1.000	A
LILRA6	79168	genome.wustl.edu	37	19	54743803	54743803	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:54743803G>A	ENST00000396365.2	-	7	1322	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	LILRA6_ENST00000245621.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P428L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	428					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGTGGGTGGGAGGCTGGA	0.692																																																	0													5.0	7.0	6.0					19																	54743803		1826	3703	5529	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1283C>T	19.37:g.54743803G>A	ENSP00000379651:p.Pro428Leu			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P428L	ENST00000396365.2	37	c.1283	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	G	7.913	0.736842	0.15574	.	.	ENSG00000244482	ENST00000419410;ENST00000396365	T;T	0.00515	6.93;6.87	2.42	-0.208	0.13185	.	.	.	.	.	T	0.00468	0.0015	L	0.60455	1.87	0.09310	N	0.999999	B;B	0.18610	0.019;0.029	B;B	0.13407	0.005;0.009	T	0.42882	-0.9425	9	0.48119	T	0.1	.	3.0348	0.06118	0.188:0.2931:0.519:0.0	.	428;428	Q6PI73;D3YTC4	LIRA6_HUMAN;.	L	428	ENSP00000411227:P428L;ENSP00000379651:P428L	ENSP00000379651:P428L	P	-	2	0	LILRA6	59435615	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	0.231000	0.17872	0.351000	0.24027	0.174000	0.16983	CCA	LILRA6	-	NULL	ENSG00000244482		0.692	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	-	0.00	50	0	G	NM_024318		54743803	-1	tier1	-	no_errors	ENST00000419410	ensembl	human	known	74_37	missense	49.21	32	31	SNP	0.001	A
LIN9	286826	genome.wustl.edu	37	1	226475417	226475417	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:226475417G>A	ENST00000328205.5	-	5	939	c.394C>T	c.(394-396)Cct>Tct	p.P132S	LIN9_ENST00000481685.1_Missense_Mutation_p.P97S|LIN9_ENST00000366801.1_Missense_Mutation_p.P81S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	116	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGTGCTTTAGGAAGCTTGAGC	0.294																																					Ovarian(197;1696 2974 11248 14117)												0													122.0	129.0	127.0					1																	226475417		2202	4299	6501	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.394C>T	1.37:g.226475417G>A	ENSP00000329102:p.Pro132Ser		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_LIN-9/ALY1	p.P132S	ENST00000328205.5	37	c.394	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995520	0.93167	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807;ENST00000359525	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.68317	2.08	0.80722	D	1	P;D;P	0.65815	0.911;0.995;0.888	P;P;B	0.62560	0.609;0.904;0.435	T	0.76708	-0.2860	9	0.48119	T	0.1	.	19.1812	0.93623	0.0:0.0:1.0:0.0	.	97;116;266	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	92;132;187;81;97;266;64	.	ENSP00000329102:P132S	P	-	1	0	LIN9	224542040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.444000	0.97578	2.533000	0.85409	0.561000	0.74099	CCT	LIN9	-	NULL	ENSG00000183814		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	-	0.00	90	0	G	NM_173083		226475417	-1	tier1	-	no_errors	ENST00000328205	ensembl	human	known	74_37	missense	25.33	56	19	SNP	1.000	A
LMF1	64788	genome.wustl.edu	37	16	919016	919016	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:919016T>C	ENST00000262301.11	-	10	1475	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	LMF1_ENST00000568897.1_Missense_Mutation_p.K269R|LMF1_ENST00000568268.1_5'Flank|LMF1_ENST00000543238.1_Missense_Mutation_p.K249R|LMF1_ENST00000399843.2_Missense_Mutation_p.K486R	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	486					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGCCAGGAGCTTGCCAGCCAG	0.687																																																	0													76.0	91.0	86.0					16																	919016		2129	4237	6366	SO:0001583	missense	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1457A>G	16.37:g.919016T>C	ENSP00000262301:p.Lys486Arg		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	pfam_LMF	p.K486R	ENST00000262301.11	37	c.1457	CCDS45373.1	16	.	.	.	.	.	.	.	.	.	.	T	9.388	1.074817	0.20227	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.21361	2.01;2.01;2.01	4.69	2.43	0.29744	.	0.121832	0.56097	N	0.000040	T	0.12475	0.0303	N	0.16368	0.405	0.80722	D	1	B	0.21606	0.058	B	0.26969	0.075	T	0.11060	-1.0603	10	0.42905	T	0.14	-12.1911	7.9418	0.29963	0.0:0.1743:0.0:0.8257	.	486	Q96S06	LMF1_HUMAN	R	486;486;269;240;249	ENSP00000262301:K486R;ENSP00000382737:K486R;ENSP00000437418:K249R	ENSP00000262301:K486R	K	-	2	0	LMF1	859017	1.000000	0.71417	0.991000	0.47740	0.126000	0.20510	2.299000	0.43611	0.190000	0.20209	0.459000	0.35465	AAG	LMF1	-	pfam_LMF	ENSG00000103227		0.687	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3	-	0.00	46	0	T	NM_022773		919016	-1	tier1	-	no_errors	ENST00000262301	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C
LINC00922	283867	genome.wustl.edu	37	16	65319330	65319330	+	lincRNA	SNP	G	G	A	rs375252980		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:65319330G>A	ENST00000569736.1	-	0	831				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		AATGCTTGGCGGTCTTGTGTG	0.517																																																	0								G		0,3854		0,0,1927	124.0	120.0	121.0			-5.7	0.0	16		121	1,8269		0,1,4134	no	intergenic				0,1,6061	AA,AG,GG		0.0121,0.0,0.0082			65319330	1,12123	1927	4135	6062			0			BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65319330G>A				RNA	SNP	-	NULL	ENST00000569736.1	37	NULL		16																																																																																			LINC00922	-	-	ENSG00000261742		0.517	LINC00922-001	KNOWN	basic	lincRNA	LINC00922	HGNC	lincRNA	OTTHUMT00000420601.2	-	0.00	39	0	G	NR_027755		65319330	-1	tier1	-	no_errors	ENST00000564041	ensembl	human	known	74_37	rna	34.38	21	11	SNP	0.000	A
TENM4	26011	genome.wustl.edu	37	11	78807960	78807961	+	Intron	INS	-	-	GC	rs376867043|rs66695606|rs369257696|rs398016808		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:78807960_78807961insGC	ENST00000278550.7	-	5	398				CTD-2337I7.1_ENST00000526091.1_lincRNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4						cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGcacgcacatgcgcgcgcgcg	0.485																																																	0																																										SO:0001627	intron_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.65-26906->GC	11.37:g.78807969_78807970dupGC			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	INS	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			CTD-2337I7.1	-	-	ENSG00000255345		0.485	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101928921	Clone_based_vega_gene	protein_coding	OTTHUMT00000391406.2		0.00	15	0	-			78807961	+1	tier1		no_errors	ENST00000526091	ensembl	human	known	74_37	rna	12.50	21	3	INS	0.000:0.000	GC
LRP5	4041	genome.wustl.edu	37	11	68157387	68157387	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:68157387T>C	ENST00000294304.7	+	7	1557	c.1451T>C	c.(1450-1452)aTc>aCc	p.I484T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	484	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACCCTAAAATCGAGTGTGCC	0.602																																																	0													130.0	119.0	122.0					11																	68157387		2200	4294	6494	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1451T>C	11.37:g.68157387T>C	ENSP00000294304:p.Ile484Thr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I484T	ENST00000294304.7	37	c.1451	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935893	0.73442	.	.	ENSG00000162337	ENST00000294304	D	0.94046	-3.34	3.3	3.3	0.37823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46758	U	0.000266	D	0.97848	0.9293	H	0.99058	4.415	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.98368	1.0552	10	0.87932	D	0	.	12.7089	0.57078	0.0:0.0:0.0:1.0	.	484	O75197	LRP5_HUMAN	T	484	ENSP00000294304:I484T	ENSP00000294304:I484T	I	+	2	0	LRP5	67913963	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.684000	0.84104	1.758000	0.51981	0.454000	0.30748	ATC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000162337		0.602	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0.00	58	0	T	NM_002335		68157387	+1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	C
LRRC63	220416	genome.wustl.edu	37	13	46802808	46802808	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr13:46802808G>T	ENST00000595396.1	+	3	772	c.772G>T	c.(772-774)Gta>Tta	p.V258L	LRRC63_ENST00000446175.1_Missense_Mutation_p.V258L			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	258										lung(1)|ovary(1)	2						AGAAACTCTTGTAACAGAAAA	0.299																																																	0																																										SO:0001583	missense	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.772G>T	13.37:g.46802808G>T	ENSP00000469337:p.Val258Leu		Q5TBN0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V258L	ENST00000595396.1	37	c.772		13	.	.	.	.	.	.	.	.	.	.	G	1.124	-0.654282	0.03480	.	.	ENSG00000173988	ENST00000378805;ENST00000446175	T;T	0.01246	5.11;5.15	4.14	0.144	0.14824	.	2.460790	0.01805	N	0.033133	T	0.01353	0.0044	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.48352	-0.9043	10	0.07325	T	0.83	0.1577	2.4421	0.04497	0.0969:0.1634:0.4042:0.3354	.	258	Q05C16	LRC63_HUMAN	L	258	ENSP00000368082:V258L;ENSP00000408828:V258L	ENSP00000368082:V258L	V	+	1	0	LRRC63	45700809	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.549000	0.06041	-0.003000	0.14444	0.485000	0.47835	GTA	LRRC63	-	NULL	ENSG00000173988		0.299	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	HGNC	protein_coding	OTTHUMT00000463266.1	-	0.00	61	0	G	XM_001718341		46802808	+1	tier1	-	no_errors	ENST00000446175	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.001	T
LRRIQ1	84125	genome.wustl.edu	37	12	85546923	85546923	+	Splice_Site	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:85546923G>T	ENST00000393217.2	+	21	4602	c.4541G>T	c.(4540-4542)aGa>aTa	p.R1514I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTAATAGCAGGTAAGCTAAA	0.289																																																	0													85.0	82.0	83.0					12																	85546923		1827	4066	5893	SO:0001630	splice_region_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4541+1G>T	12.37:g.85546923G>T			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.R1514I	ENST00000393217.2	37	c.4541	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269512	0.40095	.	.	ENSG00000133640	ENST00000393217	T	0.58652	0.32	5.42	3.59	0.41128	.	.	.	.	.	T	0.41442	0.1159	L	0.27053	0.805	0.80722	D	1	B	0.34372	0.451	B	0.31869	0.137	T	0.42982	-0.9419	9	0.87932	D	0	.	8.5163	0.33248	0.2363:0.0:0.7637:0.0	.	1514	Q96JM4	LRIQ1_HUMAN	I	1514	ENSP00000376910:R1514I	ENSP00000376910:R1514I	R	+	2	0	LRRIQ1	84071054	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	2.559000	0.45888	1.274000	0.44362	0.650000	0.86243	AGA	LRRIQ1	-	NULL	ENSG00000133640		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	99	0	G	NM_032165	Missense_Mutation	85546923	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	T
MAML1	9794	genome.wustl.edu	37	5	179192504	179192504	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:179192504G>A	ENST00000292599.3	+	2	756	c.493G>A	c.(493-495)Gac>Aac	p.D165N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.D202Y(1)|p.D165Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTCAGTCTGACAAGCCTTC	0.597																																																	2	Substitution - Missense(2)	lung(2)											35.0	39.0	38.0					5																	179192504		2203	4300	6503	SO:0001583	missense	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.493G>A	5.37:g.179192504G>A	ENSP00000292599:p.Asp165Asn			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.D165N	ENST00000292599.3	37	c.493	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202770	0.38905	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.41400	1.0	4.91	3.97	0.46021	.	0.327494	0.28677	N	0.014517	T	0.57755	0.2075	M	0.72894	2.215	0.33322	D	0.567479	D;D	0.71674	0.998;0.998	D;P	0.70227	0.968;0.867	T	0.67917	-0.5546	10	0.52906	T	0.07	-12.7403	8.3582	0.32342	0.0826:0.1575:0.7599:0.0	.	202;165	Q59GH4;Q92585	.;MAML1_HUMAN	N	165;202	ENSP00000292599:D165N	ENSP00000292599:D165N	D	+	1	0	MAML1	179125110	1.000000	0.71417	0.904000	0.35570	0.136000	0.21042	4.827000	0.62723	2.256000	0.74724	0.462000	0.41574	GAC	MAML1	-	NULL	ENSG00000161021		0.597	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2		0.00	49	0	G	NM_014757		179192504	+1			no_errors	ENST00000292599	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	A
MAMLD1	10046	genome.wustl.edu	37	X	149680831	149680831	+	3'UTR	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:149680831G>T	ENST00000370401.2	+	0	3237				MAMLD1_ENST00000432680.2_Missense_Mutation_p.A829S|MAMLD1_ENST00000426613.2_3'UTR|MAMLD1_ENST00000262858.5_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCCCGCTGCGATGGGAAC	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*602G>T	X.37:g.149680831G>T			B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.A829S	ENST00000370401.2	37	c.2485	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	-	7.608	0.674194	0.14841	.	.	ENSG00000013619	ENST00000432680	T	0.63255	-0.03	4.52	-6.81	0.01704	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37197	-0.9716	9	0.07325	T	0.83	.	8.2773	0.31879	0.7573:0.1129:0.1298:0.0	.	829	Q13495-3	.	S	829	ENSP00000414517:A829S	ENSP00000414517:A829S	A	+	1	0	MAMLD1	149431489	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.389000	0.20751	-1.296000	0.02353	-0.718000	0.03613	GCG	MAMLD1	-	NULL	ENSG00000013619		0.627	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0.00	47	0	G	NM_005491		149680831	+1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T
MAP7	9053	genome.wustl.edu	37	6	136667017	136667017	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:136667017C>A	ENST00000354570.3	-	17	2626	c.2216G>T	c.(2215-2217)gGt>gTt	p.G739V	MAP7_ENST00000454590.1_Missense_Mutation_p.G761V|MAP7_ENST00000438100.2_Missense_Mutation_p.G724V|MAP7_ENST00000432797.2_Missense_Mutation_p.G593V|MAP7_ENST00000544465.1_Missense_Mutation_p.G724V	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	739					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G739V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTCTGAACACCATCTACCTG	0.488																																																	1	Substitution - Missense(1)	lung(1)											79.0	71.0	74.0					6																	136667017		2203	4300	6503	SO:0001583	missense	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2216G>T	6.37:g.136667017C>A	ENSP00000346581:p.Gly739Val		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_MAP7	p.G761V	ENST00000354570.3	37	c.2282	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699243	0.68501	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.14640	2.51;2.5;2.5;2.49;2.51	6.05	6.05	0.98169	.	0.105775	0.42053	D	0.000763	T	0.22742	0.0549	L	0.51422	1.61	0.45791	D	0.998672	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999;0.993;1.0	P;P;D;D;D;P;D	0.77004	0.895;0.895;0.989;0.975;0.951;0.886;0.975	T	0.00200	-1.1927	10	0.87932	D	0	-14.5191	13.1952	0.59734	0.0:0.8874:0.0:0.1126	.	724;761;724;761;645;702;739	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	V	739;761;724;724;593;645	ENSP00000346581:G739V;ENSP00000414712:G761V;ENSP00000445737:G724V;ENSP00000400790:G724V;ENSP00000414879:G593V	ENSP00000344217:G645V	G	-	2	0	MAP7	136708710	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.764000	0.38471	2.880000	0.98712	0.655000	0.94253	GGT	MAP7	-	NULL	ENSG00000135525		0.488	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	-	0.00	76	0	C	NM_003980		136667017	-1	tier1	-	no_errors	ENST00000454590	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
MIR381HG	378881	genome.wustl.edu	37	14	101521055	101521055	+	lincRNA	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:101521055T>A	ENST00000553692.1	+	0	850				MIR485_ENST00000385292.2_RNA|MIR134_ENST00000385258.2_RNA|MIR323B_ENST00000385269.2_RNA|AL132709.3_ENST00000577219.1_RNA|MIR382_ENST00000385009.2_RNA|MIR487A_ENST00000384827.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		CAGAGGGGCATGCACTGTGTT	0.592																																																	0													84.0	82.0	83.0					14																	101521055		1568	3582	5150			0			AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101521055T>A				RNA	SNP	-	NULL	ENST00000553692.1	37	NULL		14																																																																																			MIR134	-	-	ENSG00000207993		0.592	MIR381HG-001	KNOWN	basic	lincRNA	MIR134	HGNC	lincRNA	OTTHUMT00000414538.1	-	0.00	55	0	T			101521055	+1	tier1	-	no_errors	ENST00000385258	ensembl	human	known	74_37	rna	7.55	49	4	SNP	0.291	A
MIR412	574433	genome.wustl.edu	37	14	101531679	101531679	+	RNA	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:101531679C>T	ENST00000362142.2	+	0	0				MIR410_ENST00000362222.2_RNA|MIR656_ENST00000385224.1_RNA|MIR409_ENST00000362237.1_RNA|MIR541_ENST00000401360.1_RNA|MIR369_ENST00000362155.3_RNA	NR_030155.1				microRNA 412																		TGCATCTGGACGACGAATGTT	0.587																																																	0													65.0	65.0	65.0					14																	101531679		1568	3582	5150			0					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531679C>T				RNA	SNP	-	NULL	ENST00000362142.2	37	NULL		14																																																																																			MIR409	-	-	ENSG00000199107		0.587	MIR412-201	KNOWN	basic	miRNA	MIR409	HGNC	miRNA		-	0.00	90	0	C	NR_030155		101531679	+1	tier1	-	no_errors	ENST00000362237	ensembl	human	known	74_37	rna	23.64	42	13	SNP	1.000	T
MPZL1	9019	genome.wustl.edu	37	1	167741701	167741701	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:167741701A>T	ENST00000359523.2	+	3	650	c.448A>T	c.(448-450)Att>Ttt	p.I150F	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.I150F	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	150					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCCTGGACACATTAGGCTCTA	0.388																																																	0													105.0	93.0	97.0					1																	167741701		2203	4300	6503	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.448A>T	1.37:g.167741701A>T	ENSP00000352513:p.Ile150Phe		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.I150F	ENST00000359523.2	37	c.448	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248300	0.80024	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	D;D;D	0.94793	-3.52;-3.52;-3.52	4.81	4.81	0.61882	Immunoglobulin V-set (1);	0.050734	0.85682	D	0.000000	D	0.96188	0.8757	M	0.72894	2.215	0.38279	D	0.942369	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	D	0.96547	0.9405	9	0.59425	D	0.04	.	15.0743	0.72066	1.0:0.0:0.0:0.0	.	150;150	O95297-3;O95297	.;MPZL1_HUMAN	F	150;150;124	ENSP00000352513:I150F;ENSP00000420455:I150F;ENSP00000356827:I124F	ENSP00000352513:I150F	I	+	1	0	MPZL1	166008325	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	3.790000	0.55461	2.116000	0.64780	0.455000	0.32223	ATT	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,prints_Myelin_P0	ENSG00000197965		0.388	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	-	0.00	48	0	A	NM_024569		167741701	+1	tier1	-	no_errors	ENST00000359523	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.996	T
MS4A10	341116	genome.wustl.edu	37	11	60565933	60565933	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:60565933C>T	ENST00000308287.1	+	7	764	c.668C>T	c.(667-669)cCg>cTg	p.P223L		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	223						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GTGGAGCCCCCGCCATCCTAC	0.562																																																	0													100.0	94.0	96.0					11																	60565933		2203	4299	6502	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.668C>T	11.37:g.60565933C>T	ENSP00000311862:p.Pro223Leu		B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.P223L	ENST00000308287.1	37	c.668	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	C	7.532	0.658968	0.14645	.	.	ENSG00000172689	ENST00000308287	T	0.25912	1.77	2.59	1.67	0.24075	.	0.253290	0.20954	N	0.082695	T	0.13884	0.0336	L	0.29908	0.895	0.09310	N	1	P	0.38711	0.643	B	0.31946	0.138	T	0.15235	-1.0444	10	0.72032	D	0.01	-3.5167	5.3715	0.16142	0.0:0.8369:0.0:0.1631	.	223	Q96PG2	M4A10_HUMAN	L	223	ENSP00000311862:P223L	ENSP00000311862:P223L	P	+	2	0	MS4A10	60322509	0.002000	0.14202	0.011000	0.14972	0.009000	0.06853	0.264000	0.18497	0.639000	0.30564	0.467000	0.42956	CCG	MS4A10	-	NULL	ENSG00000172689		0.562	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	-	0.00	69	0	C	NM_206893		60565933	+1	tier1	-	no_errors	ENST00000308287	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.012	T
MT-ND2	4536	genome.wustl.edu	37	M	1605	1605	+	5'Flank	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrM:1605A>G	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_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						TGGACGAACCAGAGTGTAGCT	0.428																																																	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.1605A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-TV	-	-	ENSG00000210077		0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-TV	HGNC	protein_coding		-	0.00	26	0	A	YP_003024027		1605	+1	tier1	-	no_errors	ENST00000387342	ensembl	human	known	74_37	rna	36.36	7	4	SNP	NULL	G
MTR	4548	genome.wustl.edu	37	1	237057959	237057959	+	Intron	DEL	T	T	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:237057959delT	ENST00000366577.5	+	30	3799				MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AACCAGTGTCTTTTTTTTTTT	0.463																																																	0																																										SO:0001627	intron_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3405+102T>-	1.37:g.237057959delT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	DEL	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.463	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	17	0	T	NM_000254		237057959	+1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	50.00	4	4	DEL	0.000	-
MYH1	4619	genome.wustl.edu	37	17	10415473	10415473	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:10415473G>C	ENST00000226207.5	-	13	1278	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	395	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGATCTGCAGAGTTCAGATT	0.473																																																	0													211.0	198.0	203.0					17																	10415473		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1184C>G	17.37:g.10415473G>C	ENSP00000226207:p.Ser395Cys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S395C	ENST00000226207.5	37	c.1184	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929814	0.73327	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87887	-2.31	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.42294	U	0.000738	D	0.94420	0.8205	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	D	0.68621	0.959	D	0.94575	0.7774	10	0.66056	D	0.02	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	395	P12882	MYH1_HUMAN	C	395	ENSP00000226207:S395C	ENSP00000226207:S395C	S	-	2	0	MYH1	10356198	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.715000	0.98748	2.746000	0.94184	0.655000	0.94253	TCT	MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109061		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0.00	96	0	G	NM_005963		10415473	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	17.39	95	20	SNP	1.000	C
MYH2	4620	genome.wustl.edu	37	17	10426976	10426976	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:10426976A>T	ENST00000245503.5	-	37	5693	c.5309T>A	c.(5308-5310)aTg>aAg	p.M1770K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M1770K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1770					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCATCATGGCGGCCTA	0.493																																																	0													107.0	109.0	109.0					17																	10426976		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5309T>A	17.37:g.10426976A>T	ENSP00000245503:p.Met1770Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1770K	ENST00000245503.5	37	c.5309	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402997	0.62288	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.75938	-0.98;-0.98	5.46	5.46	0.80206	Myosin tail (1);	0.000000	0.47852	U	0.000220	D	0.84347	0.5452	M	0.81942	2.565	0.80722	D	1	B	0.31290	0.318	P	0.48982	0.597	D	0.83398	0.0021	10	0.41790	T	0.15	.	15.7597	0.78070	1.0:0.0:0.0:0.0	.	1770	Q9UKX2	MYH2_HUMAN	K	1770	ENSP00000245503:M1770K;ENSP00000380367:M1770K	ENSP00000245503:M1770K	M	-	2	0	MYH2	10367701	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.317000	0.79018	2.305000	0.77605	0.529000	0.55759	ATG	MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.493	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0.00	111	0	A	NM_017534		10426976	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	39.42	63	41	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18023165	18023165	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:18023165G>A	ENST00000205890.5	+	2	1389	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	351					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A351T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCGTACGACGCGCCATACCC	0.602																																																	1	Substitution - Missense(1)	endometrium(1)											83.0	93.0	90.0					17																	18023165		2033	4178	6211	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1051G>A	17.37:g.18023165G>A	ENSP00000205890:p.Ala351Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A351T	ENST00000205890.5	37	c.1051	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427316	0.11987	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.07	-5.64	0.02466	.	.	.	.	.	T	0.68403	0.2997	N	0.19112	0.55	0.09310	N	0.999999	B	0.13145	0.007	B	0.04013	0.001	T	0.54906	-0.8223	9	0.22109	T	0.4	.	0.0988	0.00046	0.3358:0.1841:0.1943:0.2859	.	351	Q9UKN7	MYO15_HUMAN	T	351	ENSP00000205890:A351T	ENSP00000205890:A351T	A	+	1	0	MYO15A	17963890	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.258000	0.18387	-1.334000	0.02244	-0.258000	0.10820	GCG	MYO15A	-	NULL	ENSG00000091536		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	88	0	G	NM_016239		18023165	+1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.000	A
MYO1D	4642	genome.wustl.edu	37	17	30921477	30921477	+	Intron	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:30921477G>C	ENST00000318217.5	-	21	3169				MYO1D_ENST00000394649.4_Intron|MYO1D_ENST00000579584.1_3'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID						early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			acttttgtttgtttctcagcc	0.313																																																	0																																										SO:0001627	intron_variant	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2864+10627C>G	17.37:g.30921477G>C			A6H8V3|Q8NHP9	RNA	SNP	-	NULL	ENST00000318217.5	37	NULL	CCDS32615.1	17																																																																																			MYO1D	-	-	ENSG00000176658		0.313	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0.00	41	0	G			30921477	-1	tier1	-	no_errors	ENST00000580547	ensembl	human	putative	74_37	rna	19.05	34	8	SNP	0.000	C
MYO5B	4645	genome.wustl.edu	37	18	47402068	47402068	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr18:47402068T>A	ENST00000285039.7	-	26	3825	c.3526A>T	c.(3526-3528)Aag>Tag	p.K1176*	MYO5B_ENST00000324581.6_Nonsense_Mutation_p.K317*|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1176					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGACTTTCTTGCTGTCCTGC	0.532																																																	0													226.0	233.0	231.0					18																	47402068		2116	4229	6345	SO:0001587	stop_gained	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3526A>T	18.37:g.47402068T>A	ENSP00000285039:p.Lys1176*		B0I1R3|Q0P656|Q9H6Y6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1176*	ENST00000285039.7	37	c.3526	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	37	6.024523	0.97211	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	.	.	.	5.28	2.85	0.33270	.	0.615660	0.16580	N	0.208258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.9871	0.53153	0.0:0.0:0.2922:0.7078	.	.	.	.	X	1176;317	.	ENSP00000285039:K1176X	K	-	1	0	MYO5B	45656066	1.000000	0.71417	0.760000	0.31359	0.987000	0.75469	0.812000	0.27211	0.311000	0.23014	0.459000	0.35465	AAG	MYO5B	-	NULL	ENSG00000167306		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2		0.00	69	0	T			47402068	-1			no_errors	ENST00000285039	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A
MYOCD	93649	genome.wustl.edu	37	17	12656133	12656133	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:12656133C>T	ENST00000343344.4	+	10	1528	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.L510L|AC005358.1_ENST00000609971.1_Silent_p.L414L			Q8IZQ8	MYCD_HUMAN	myocardin	510					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)		TCCTTCTGAGCTGGATGGGCT	0.582																																																	0													46.0	44.0	45.0					17																	12656133		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.1528C>T	17.37:g.12656133C>T			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L510	ENST00000343344.4	37	c.1528	CCDS11163.1	17																																																																																			MYOCD	-	NULL	ENSG00000141052		0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0.00	43	0	C	NM_153604		12656133	+1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.563	T
N4BP2L2	10443	genome.wustl.edu	37	13	33091950	33091950	+	Missense_Mutation	SNP	T	T	C	rs138840363		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr13:33091950T>C	ENST00000267068.3	-	6	1905	c.1741A>G	c.(1741-1743)Aat>Gat	p.N581D	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	581					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.N581H(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TAATGATTATTTGTGACACAG	0.408																																																	1	Substitution - Missense(1)	lung(1)						T	ASP/ASN,	1,4403	2.1+/-5.4	0,1,2201	104.0	100.0	101.0		1741,	-6.0	0.0	13	dbSNP_134	101	0,8600		0,0,4300	no	missense,intron	N4BP2L2	NM_014887.2,NM_033111.3	23,	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,	581/584,	33091950	1,13003	2202	4300	6502	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1741A>G	13.37:g.33091950T>C	ENSP00000267068:p.Asn581Asp		A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase	p.N581D	ENST00000267068.3	37	c.1741	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.819274	0.00595	2.27E-4	0.0	ENSG00000244754	ENST00000267068	T	0.41065	1.01	5.53	-6.02	0.02192	.	.	.	.	.	T	0.11922	0.0290	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	9	0.02654	T	1	.	3.7626	0.08610	0.1117:0.3996:0.1152:0.3735	.	581	Q92802	N42L2_HUMAN	D	581	ENSP00000267068:N581D	ENSP00000267068:N581D	N	-	1	0	N4BP2L2	31989950	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.276000	0.02815	-1.202000	0.02655	-0.280000	0.10049	AAT	N4BP2L2	-	NULL	ENSG00000244754		0.408	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1		0.00	69	0	T	NM_014887		33091950	-1			no_errors	ENST00000267068	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	C
NAALADL2	254827	genome.wustl.edu	37	3	175473128	175473128	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:175473128G>A	ENST00000454872.1	+	13	2239	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	704						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCACCCATCCGCATCCGGATG	0.483																																																	0													67.0	66.0	66.0					3																	175473128		1936	4139	6075	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2111G>A	3.37:g.175473128G>A	ENSP00000404705:p.Arg704His		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.R704H	ENST00000454872.1	37	c.2111	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748370	0.30955	.	.	ENSG00000177694	ENST00000454872	T	0.30714	1.52	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.076118	0.48286	D	0.000186	T	0.30448	0.0765	N	0.12746	0.255	0.28488	N	0.914625	D	0.63046	0.992	P	0.51266	0.664	T	0.11867	-1.0570	10	0.45353	T	0.12	-11.4838	19.8494	0.96733	0.0:0.0:1.0:0.0	.	704	Q58DX5	NADL2_HUMAN	H	704	ENSP00000404705:R704H	ENSP00000404705:R704H	R	+	2	0	NAALADL2	176955822	1.000000	0.71417	0.275000	0.24674	0.406000	0.30931	6.879000	0.75572	2.694000	0.91930	0.591000	0.81541	CGC	NAALADL2	-	superfamily_TFR-like_dimer_dom	ENSG00000177694		0.483	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2		0.00	44	0	G	NM_207015		175473128	+1			no_errors	ENST00000454872	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.815	A
NAPSA	9476	genome.wustl.edu	37	19	50863114	50863114	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:50863114G>T	ENST00000253719.2	-	6	882	c.674C>A	c.(673-675)cCt>cAt	p.P225H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	225					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGGCTCTTCAGGGTCCCTGCA	0.622																																																	0													63.0	66.0	65.0					19																	50863114		2203	4300	6503	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.674C>A	19.37:g.50863114G>T	ENSP00000253719:p.Pro225His		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.P225H	ENST00000253719.2	37	c.674	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758420	0.49468	.	.	ENSG00000131400	ENST00000253719	T	0.57595	0.39	3.68	2.63	0.31362	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.269772	0.42420	D	0.000720	T	0.68063	0.2960	M	0.85462	2.755	0.40810	D	0.983413	D	0.69078	0.997	P	0.60173	0.87	T	0.71464	-0.4585	10	0.87932	D	0	.	8.9621	0.35854	0.1167:0.0:0.8833:0.0	.	225	O96009	NAPSA_HUMAN	H	225	ENSP00000253719:P225H	ENSP00000253719:P225H	P	-	2	0	NAPSA	55554926	1.000000	0.71417	0.401000	0.26359	0.440000	0.31957	5.629000	0.67798	0.664000	0.31047	0.313000	0.20887	CCT	NAPSA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.622	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1		0.00	78	0	G	NM_004851		50863114	-1			no_errors	ENST00000253719	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.993	T
NCDN	23154	genome.wustl.edu	37	1	36028933	36028933	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:36028933G>A	ENST00000373243.2	+	5	1899	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	NCDN_ENST00000356090.4_Missense_Mutation_p.D506N|NCDN_ENST00000373253.3_Missense_Mutation_p.D489N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	506					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTGGCCACGACACCTCGGT	0.612																																																	0													109.0	106.0	107.0					1																	36028933		2203	4300	6503	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1516G>A	1.37:g.36028933G>A	ENSP00000362340:p.Asp506Asn		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.D506N	ENST00000373243.2	37	c.1516	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234886	0.22626	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	3.8	0.43715	.	0.273852	0.34725	N	0.003734	T	0.24160	0.0585	N	0.14661	0.345	0.22266	N	0.999241	B	0.19331	0.035	B	0.10450	0.005	T	0.13980	-1.0489	9	0.37606	T	0.19	.	8.9912	0.36026	0.1832:0.0:0.8168:0.0	.	506	Q9UBB6	NCDN_HUMAN	N	489;506;506	.	ENSP00000348394:D506N	D	+	1	0	NCDN	35801520	0.567000	0.26626	0.997000	0.53966	0.990000	0.78478	1.906000	0.39887	0.973000	0.38340	0.462000	0.41574	GAC	NCDN	-	NULL	ENSG00000020129		0.612	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0.00	38	0	G	NM_014284		36028933	+1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.465	A
NDST4	64579	genome.wustl.edu	37	4	115997643	115997643	+	Missense_Mutation	SNP	G	G	T	rs564044682		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:115997643G>T	ENST00000264363.2	-	2	1228	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	184	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L184V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATTGAAAAGGTTTAACGGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											72.0	72.0	72.0					4																	115997643		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.550C>A	4.37:g.115997643G>T	ENSP00000264363:p.Leu184Ile		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L184I	ENST00000264363.2	37	c.550	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	9.214	1.031595	0.19590	.	.	ENSG00000138653	ENST00000264363	T	0.39406	1.08	5.25	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.39397	1.21	0.51233	D	0.999912	B	0.12013	0.005	B	0.22880	0.042	T	0.08249	-1.0731	10	0.11182	T	0.66	.	12.9535	0.58413	0.0792:0.0:0.9208:0.0	.	184	Q9H3R1	NDST4_HUMAN	I	184	ENSP00000264363:L184I	ENSP00000264363:L184I	L	-	1	0	NDST4	116217092	1.000000	0.71417	0.760000	0.31359	0.818000	0.46254	4.789000	0.62446	1.170000	0.42753	0.591000	0.81541	CTT	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.388	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0.00	74	0	G	NM_022569		115997643	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.996	T
NDUFAF3	25915	genome.wustl.edu	37	3	49059963	49059963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:49059963C>T	ENST00000326925.6	+	2	1396	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	DALRD3_ENST00000440857.1_5'Flank|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Nonsense_Mutation_p.Q31*|NDUFAF3_ENST00000326912.4_Nonsense_Mutation_p.Q31*|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000451378.2_Nonsense_Mutation_p.Q31*	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	88					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.Q88K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTCGGTGGTGCAGTGGAACGT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											26.0	25.0	25.0					3																	49059963		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.262C>T	3.37:g.49059963C>T	ENSP00000323076:p.Gln88*			Nonsense_Mutation	SNP	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	p.Q88*	ENST00000326925.6	37	c.262	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.221442	0.95139	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-24.1416	18.6934	0.91592	0.0:1.0:0.0:0.0	.	.	.	.	X	31;88;31;31	.	ENSP00000323003:Q31X	Q	+	1	0	NDUFAF3	49034967	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	7.273000	0.78527	2.509000	0.84616	0.591000	0.81541	CAG	NDUFAF3	-	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	ENSG00000178057		0.612	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF3	HGNC	protein_coding	OTTHUMT00000345683.2		0.00	38	0	C	NM_199069		49059963	+1			no_errors	ENST00000326925	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T
NFYB	4801	genome.wustl.edu	37	12	104515062	104515062	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:104515062G>T	ENST00000240055.3	-	6	694	c.467C>A	c.(466-468)aCa>aAa	p.T156K	NFYB_ENST00000551727.1_Missense_Mutation_p.T156K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	156	C domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCTGTGACTGCTCC	0.363																																																	0													302.0	299.0	300.0					12																	104515062		2203	4300	6503	SO:0001583	missense	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.467C>A	12.37:g.104515062G>T	ENSP00000240055:p.Thr156Lys		A8K7B9|Q96IY8	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.T156K	ENST00000240055.3	37	c.467	CCDS9098.1	12	.	.	.	.	.	.	.	.	.	.	.	19.74	3.883604	0.72410	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.21031	2.03;2.03	5.58	5.58	0.84498	Histone-fold (2);	0.250779	0.47455	D	0.000232	T	0.20700	0.0498	L	0.33485	1.01	0.42638	D	0.993407	B	0.18013	0.025	B	0.23275	0.045	T	0.03403	-1.1040	10	0.29301	T	0.29	-9.8463	19.5809	0.95467	0.0:0.0:1.0:0.0	.	156	P25208	NFYB_HUMAN	K	156	ENSP00000240055:T156K;ENSP00000447486:T156K	ENSP00000240055:T156K	T	-	2	0	NFYB	103039192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.301000	0.89951	2.629000	0.89072	0.650000	0.86243	ACA	NFYB	-	superfamily_Histone-fold	ENSG00000120837		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0.00	42	0	G			104515062	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
NOTCH2	4853	genome.wustl.edu	37	1	120512304	120512304	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:120512304C>T	ENST00000256646.2	-	6	1157	c.938G>A	c.(937-939)gGc>gAc	p.G313D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	313	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACAGGTGCCCCCATTTTG	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													142.0	109.0	121.0					1																	120512304		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.938G>A	1.37:g.120512304C>T	ENSP00000256646:p.Gly313Asp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G313D	ENST00000256646.2	37	c.938	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.370072	0.95900	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.82167	-1.58	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	U	0.001642	D	0.92590	0.7646	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;0.994;1.0	D	0.93029	0.6447	10	0.59425	D	0.04	.	18.8873	0.92383	0.0:1.0:0.0:0.0	.	274;313;313	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	D	313;274	ENSP00000256646:G313D	ENSP00000256646:G313D	G	-	2	0	NOTCH2	120313827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.708000	0.92522	0.655000	0.94253	GGC	NOTCH2	-	pirsf_Notch,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0.00	79	0	C	NM_024408		120512304	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	T
NRIP1	8204	genome.wustl.edu	37	21	16339180	16339180	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr21:16339180C>T	ENST00000400202.1	-	3	2046	c.1334G>A	c.(1333-1335)tGc>tAc	p.C445Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.C445Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.C445Y|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	445	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCGGTGTTTGCAAGACAAGTC	0.388																																																	0													142.0	133.0	136.0					21																	16339180		2203	4300	6503	SO:0001583	missense	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1334G>A	21.37:g.16339180C>T	ENSP00000383063:p.Cys445Tyr		Q8IWE8	Missense_Mutation	SNP	NULL	p.C445Y	ENST00000400202.1	37	c.1334	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203135	0.38905	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18502	2.21;2.21;2.21	6.06	5.11	0.69529	.	0.204197	0.45361	D	0.000380	T	0.12561	0.0305	L	0.36672	1.1	0.45621	D	0.998556	B	0.33583	0.418	B	0.30943	0.122	T	0.08659	-1.0711	10	0.16896	T	0.51	-8.6602	11.8723	0.52527	0.3693:0.6307:0.0:0.0	.	445	P48552	NRIP1_HUMAN	Y	445	ENSP00000383060:C445Y;ENSP00000383063:C445Y;ENSP00000327213:C445Y	ENSP00000327213:C445Y	C	-	2	0	NRIP1	15261051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.165000	0.71891	2.879000	0.98667	0.650000	0.86243	TGC	NRIP1	-	NULL	ENSG00000180530		0.388	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	-	0.00	58	0	C	NM_003489		16339180	-1	tier1	-	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
NSMCE1	197370	genome.wustl.edu	37	16	27237089	27237089	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:27237089G>A	ENST00000361439.4	-	7	778	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	227					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TGGGGGCAGCGCGGTTCAGCA	0.617																																																	0													59.0	66.0	64.0					16																	27237089		2039	4188	6227	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.679C>T	16.37:g.27237089G>A	ENSP00000355077:p.Arg227Cys		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.R227C	ENST00000361439.4	37	c.679	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	G	7.938	0.742241	0.15642	.	.	ENSG00000169189	ENST00000361439	T	0.68479	-0.33	5.42	4.46	0.54185	Zinc finger, RING-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, RING-like (1);	0.857296	0.10649	N	0.650088	T	0.62245	0.2412	L	0.56769	1.78	0.09310	N	1	P	0.34629	0.46	B	0.22152	0.038	T	0.54282	-0.8317	10	0.51188	T	0.08	.	14.9898	0.71377	0.0:0.1433:0.8567:0.0	.	227	Q8WV22	NSE1_HUMAN	C	227	ENSP00000355077:R227C	ENSP00000355077:R227C	R	-	1	0	NSMCE1	27144590	0.934000	0.31675	0.020000	0.16555	0.068000	0.16541	5.952000	0.70282	1.265000	0.44215	0.561000	0.74099	CGC	NSMCE1	-	pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	ENSG00000169189		0.617	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3	-	0.00	78	0	G	NM_145080		27237089	-1	tier1	-	no_errors	ENST00000361439	ensembl	human	known	74_37	missense	23.30	79	24	SNP	0.044	A
NUAK1	9891	genome.wustl.edu	37	12	106460744	106460744	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:106460744G>A	ENST00000261402.2	-	7	3201	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	608					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGATCTGGAGGAAGTTTTCT	0.617																																																	0													37.0	44.0	42.0					12																	106460744		2203	4300	6503	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1822C>T	12.37:g.106460744G>A	ENSP00000261402:p.Leu608Phe		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L608F	ENST00000261402.2	37	c.1822	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415411	0.83449	.	.	ENSG00000074590	ENST00000261402	T	0.78595	-1.19	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000058	D	0.85128	0.5626	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	D	0.84758	0.0760	10	0.46703	T	0.11	.	13.3208	0.60432	0.0721:0.0:0.9279:0.0	.	608	O60285	NUAK1_HUMAN	F	608	ENSP00000261402:L608F	ENSP00000261402:L608F	L	-	1	0	NUAK1	104984874	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.646000	0.83445	2.756000	0.94617	0.563000	0.77884	CTC	NUAK1	-	NULL	ENSG00000074590		0.617	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0.00	83	0	G	NM_014840		106460744	-1	tier1	-	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	19.77	69	17	SNP	1.000	A
OR2AG2	338755	genome.wustl.edu	37	11	6790090	6790090	+	Silent	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:6790090G>T	ENST00000338569.2	-	1	196	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	33						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)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATGTATAGGATTGTAAATG	0.537																																																	0													114.0	108.0	110.0					11																	6790090		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.99C>A	11.37:g.6790090G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I33	ENST00000338569.2	37	c.99	CCDS31413.1	11																																																																																			OR2AG2	-	prints_GPCR_Rhodpsn	ENSG00000188124		0.537	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	-	0.00	85	0	G	NM_001004490		6790090	-1	tier1	-	no_errors	ENST00000338569	ensembl	human	known	74_37	silent	40.98	36	25	SNP	0.000	T
OSBPL9	114883	genome.wustl.edu	37	1	52253063	52253063	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:52253063A>C	ENST00000428468.1	+	23	2041	c.2039A>C	c.(2038-2040)gAc>gCc	p.D680A	OSBPL9_ENST00000462759.1_Missense_Mutation_p.D502A|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D667A|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D515A|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D599A|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D685A|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D663A|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D502A|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D690A|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D515A|OSBPL9_ENST00000371710.3_Missense_Mutation_p.D698A|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D570A			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	680					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAAATCAGAGACATTGATGCA	0.443																																																	0													119.0	116.0	117.0					1																	52253063		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.2039A>C	1.37:g.52253063A>C	ENSP00000407168:p.Asp680Ala		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D698A	ENST00000428468.1	37	c.2093	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625249	0.87560	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.986;0.998;0.989;0.992	D;D;D;D;D	0.81914	0.995;0.917;0.988;0.95;0.912	T	0.79945	-0.1589	10	0.87932	D	0	-13.3404	15.545	0.76090	1.0:0.0:0.0:0.0	.	663;570;696;680;685	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	A	667;698;685;690;515;680;663;599;515;570;502;502	ENSP00000360779:D667A;ENSP00000360775:D698A;ENSP00000337265:D685A;ENSP00000412733:D690A;ENSP00000402646:D515A;ENSP00000407168:D680A;ENSP00000413263:D663A;ENSP00000433675:D599A;ENSP00000433083:D515A;ENSP00000354970:D570A;ENSP00000433279:D502A;ENSP00000431980:D502A	ENSP00000337265:D685A	D	+	2	0	OSBPL9	52025651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.518000	0.90559	2.266000	0.75297	0.529000	0.55759	GAC	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.443	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0.00	57	0	A			52253063	+1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	C
OR2T3	343173	genome.wustl.edu	37	1	248636827	248636827	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:248636827G>A	ENST00000359594.2	+	1	201	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGAGCCCCGCCTCCACACC	0.567																																																	0													12.0	9.0	10.0					1																	248636827		2119	3960	6079	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.176G>A	1.37:g.248636827G>A	ENSP00000352604:p.Arg59His		B2RNJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R59H	ENST00000359594.2	37	c.176	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	g	4.714	0.132804	0.09032	.	.	ENSG00000196539	ENST00000359594	T	0.00476	7.15	2.65	-0.709	0.11237	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.13003	0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	9	0.07990	T	0.79	.	3.9228	0.09251	0.4998:0.194:0.3062:0.0	.	59	Q8NH03	OR2T3_HUMAN	H	59	ENSP00000352604:R59H	ENSP00000352604:R59H	R	+	2	0	OR2T3	246703450	.	.	0.007000	0.13788	0.410000	0.31052	.	.	-0.146000	0.11274	0.186000	0.17326	CGC	OR2T3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196539		0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	-	0.00	44	0	G	NM_001005495		248636827	+1	tier1	-	no_errors	ENST00000359594	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.000	A
OTOG	340990	genome.wustl.edu	37	11	17580138	17580138	+	Silent	SNP	C	C	T	rs575344158		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:17580138C>T	ENST00000399391.2	+	9	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H	OTOG_ENST00000399397.1_Silent_p.H289H	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	362					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						ACGCCTGCCACGCCTACGTCA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18597	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_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.1086C>T	11.37:g.17580138C>T			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.H362	ENST00000399391.2	37	c.1086	CCDS59225.1	11																																																																																			OTOG	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000188162		0.617	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	42	0	C			17580138	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.953	T
PAPPA2	60676	genome.wustl.edu	37	1	176679139	176679139	+	Missense_Mutation	SNP	A	A	G	rs372969954		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:176679139A>G	ENST00000367662.3	+	11	4642	c.3478A>G	c.(3478-3480)Atg>Gtg	p.M1160V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1160					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTTGCTACATGTATGAGGG	0.408																																																	0								A	VAL/MET	0,3788		0,0,1894	119.0	111.0	113.0		3478	-4.1	0.0	1		113	1,8241		0,1,4120	no	missense	PAPPA2	NM_020318.2	21	0,1,6014	GG,GA,AA		0.0121,0.0,0.0083	benign	1160/1792	176679139	1,12029	1894	4121	6015	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3478A>G	1.37:g.176679139A>G	ENSP00000356634:p.Met1160Val		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.M1160V	ENST00000367662.3	37	c.3478	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.810929	0.00600	0.0	1.21E-4	ENSG00000116183	ENST00000367662	T	0.39406	1.08	5.76	-4.05	0.03998	.	0.490362	0.23720	N	0.045224	T	0.08268	0.0206	N	0.00841	-1.15	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	10	0.05525	T	0.97	0.0301	4.1855	0.10395	0.2547:0.2165:0.4233:0.1055	.	1160	Q9BXP8	PAPP2_HUMAN	V	1160	ENSP00000356634:M1160V	ENSP00000356634:M1160V	M	+	1	0	PAPPA2	174945762	0.972000	0.33761	0.003000	0.11579	0.236000	0.25371	0.471000	0.22100	-1.126000	0.02929	-1.148000	0.01847	ATG	PAPPA2	-	NULL	ENSG00000116183		0.408	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0.00	48	0	A			176679139	+1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.006	G
PDZD2	23037	genome.wustl.edu	37	5	32057775	32057775	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:32057775G>C	ENST00000438447.1	+	11	2303	c.1915G>C	c.(1915-1917)Gat>Cat	p.D639H	PDZD2_ENST00000282493.3_Missense_Mutation_p.D639H			O15018	PDZD2_HUMAN	PDZ domain containing 2	639	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAATCCTAGATGTAAATGG	0.338											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115.0	115.0	115.0					5																	32057775		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1915G>C	5.37:g.32057775G>C	ENSP00000402033:p.Asp639His	829	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D639H	ENST00000438447.1	37	c.1915	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722182	0.68959	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.27104	1.69;1.69	5.82	4.95	0.65309	PDZ/DHR/GLGF (4);	0.000000	0.47093	D	0.000251	T	0.34337	0.0894	N	0.16790	0.44	0.40409	D	0.979738	D;D	0.89917	0.995;1.0	D;D	0.72982	0.95;0.979	T	0.32268	-0.9913	10	0.62326	D	0.03	.	14.0425	0.64684	0.0:0.0:0.8478:0.1522	.	465;639	B4E3P2;O15018	.;PDZD2_HUMAN	H	639;458;639	ENSP00000402033:D639H;ENSP00000282493:D639H	ENSP00000282493:D639H	D	+	1	0	PDZD2	32093532	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.911000	0.92721	1.457000	0.47850	-0.188000	0.12872	GAT	PDZD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.338	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	48	0	G			32057775	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	C
PCDHA10	56139	genome.wustl.edu	37	5	140235896	140235896	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:140235896G>A	ENST00000307360.5	+	1	263	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R88Q|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATTGACCGC	0.592																																																	0													119.0	128.0	125.0					5																	140235896		2198	4277	6475	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.263G>A	5.37:g.140235896G>A	ENSP00000304234:p.Arg88Gln		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R88Q	ENST00000307360.5	37	c.263	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	19.46	3.830854	0.71258	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.34859	1.34;1.34	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67277	0.2876	H	0.95470	3.675	0.22918	N	0.998569	D;D;D	0.89917	1.0;0.995;0.993	D;P;P	0.66847	0.947;0.896;0.877	T	0.62459	-0.6850	9	0.87932	D	0	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	88;88;88	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Q	88	ENSP00000421030:R88Q;ENSP00000304234:R88Q	ENSP00000304234:R88Q	R	+	2	0	PCDHA10	140216080	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	0.235000	0.17948	2.391000	0.81399	0.556000	0.70494	CGG	PCDHA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000250120		0.592	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0.00	165	0	G	NM_018901		140235896	+1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	22.87	145	43	SNP	1.000	A
PCDHB12	56124	genome.wustl.edu	37	5	140589663	140589663	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:140589663C>T	ENST00000239450.2	+	1	1373	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S58F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	395	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(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCGGTAAAT	0.488																																																	0													65.0	66.0	66.0					5																	140589663		2203	4300	6503	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1184C>T	5.37:g.140589663C>T	ENSP00000239450:p.Ser395Phe		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S395F	ENST00000239450.2	37	c.1184	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109124	0.20714	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.61	3.87	2.98	0.34508	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68723	0.3032	M	0.89414	3.03	0.09310	N	1	P	0.45531	0.86	P	0.59948	0.866	T	0.59075	-0.7522	9	0.87932	D	0	.	9.3922	0.38381	0.1618:0.6814:0.1567:0.0	.	395	Q9Y5F1	PCDBC_HUMAN	F	58;395;15	ENSP00000440199:S58F;ENSP00000239450:S395F	ENSP00000239450:S395F	S	+	2	0	PCDHB12	140569847	0.000000	0.05858	0.014000	0.15608	0.085000	0.17905	1.261000	0.32980	0.706000	0.31912	0.491000	0.48974	TCT	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.488	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0.00	154	0	C	NM_018932		140589663	+1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	24.59	92	30	SNP	0.001	T
PCDH12	51294	genome.wustl.edu	37	5	141335614	141335614	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:141335614C>T	ENST00000231484.3	-	1	3013	c.1803G>A	c.(1801-1803)gcG>gcA	p.A601A	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCCCGCTGGGCCCA	0.607																																																	0													49.0	45.0	47.0					5																	141335614		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1803G>A	5.37:g.141335614C>T			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A601	ENST00000231484.3	37	c.1803	CCDS4269.1	5																																																																																			PCDH12	-	superfamily_Cadherin-like	ENSG00000113555		0.607	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0.00	101	0	C	NM_016580		141335614	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	silent	21.85	118	33	SNP	0.000	T
PEX1	5189	genome.wustl.edu	37	7	92135590	92135590	+	Silent	SNP	C	C	T	rs376600394		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:92135590C>T	ENST00000248633.4	-	11	1967	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	PEX1_ENST00000438045.1_Silent_p.V302V|PEX1_ENST00000428214.1_Silent_p.V624V|PEX1_ENST00000541751.1_Silent_p.V41V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	624					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAACTCTCTCCACATGGGCAT	0.353																																																	0								C		0,4406		0,0,2203	171.0	160.0	164.0		1872	5.2	1.0	7		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX1	NM_000466.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		624/1284	92135590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1872G>A	7.37:g.92135590C>T			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.V624	ENST00000248633.4	37	c.1872	CCDS5627.1	7																																																																																			PEX1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000127980		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3		0.00	62	0	C	NM_000466		92135590	-1			no_errors	ENST00000248633	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T
PIGS	94005	genome.wustl.edu	37	17	26881311	26881311	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:26881311G>A	ENST00000308360.7	-	12	1970	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	UNC119_ENST00000484980.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.P471L|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.P524L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	532					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGGAGGATGGGCACAGCCAT	0.547																																																	0													139.0	135.0	136.0					17																	26881311		2203	4300	6503	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1595C>T	17.37:g.26881311G>A	ENSP00000309430:p.Pro532Leu		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.P532L	ENST00000308360.7	37	c.1595	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.104877	0.94245	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.53640	0.61;0.61;0.61	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78679	-0.2110	10	0.51188	T	0.08	-23.4083	18.8446	0.92200	0.0:0.0:1.0:0.0	.	532;524	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	524;532;471	ENSP00000378755:P524L;ENSP00000309430:P532L;ENSP00000438447:P471L	ENSP00000309430:P532L	P	-	2	0	PIGS	23905438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.460000	0.97641	2.438000	0.82558	0.655000	0.94253	CCC	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.547	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3		0.00	57	0	G	NM_033198		26881311	-1			no_errors	ENST00000308360	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2157788	2157788	+	Intron	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:2157788G>A	ENST00000262304.4	-	16	7274				PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Intron	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGGAGAGCGTGCGGCCTCC	0.567																																																	0																																										SO:0001627	intron_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7065+95C>T	16.37:g.2157788G>A			Q15140|Q15141	RNA	SNP	-	NULL	ENST00000262304.4	37	NULL	CCDS32369.1	16																																																																																			PKD1	-	-	ENSG00000008710		0.567	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	74	0	G			2157788	-1	tier1	-	no_errors	ENST00000473780	ensembl	human	putative	74_37	rna	37.74	66	40	SNP	0.000	A
PKD1L3	342372	genome.wustl.edu	37	16	71976822	71976822	+	RNA	SNP	A	A	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:71976822A>T	ENST00000534738.1	-	0	3960							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						GATTTCCGAGAACTGGTGCGA	0.448																																																	0													82.0	70.0	74.0					16																	71976822		692	1591	2283			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71976822A>T				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.448	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	-	0.00	130	0	A	NM_181536		71976822	-1	tier1	-	no_errors	ENST00000335106	ensembl	human	known	74_37	rna	34.38	84	44	SNP	0.165	T
PKIA	5569	genome.wustl.edu	37	8	79514046	79514046	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:79514046C>A	ENST00000396418.2	+	4	707	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	PKIA_ENST00000518467.1_Missense_Mutation_p.S74Y|PKIA_ENST00000352966.5_Missense_Mutation_p.S74Y	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	74					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GCAGCAAAATCTGAAAGCTAA	0.433																																																	0													130.0	114.0	119.0					8																	79514046		2203	4300	6503	SO:0001583	missense	0			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.221C>A	8.37:g.79514046C>A	ENSP00000379696:p.Ser74Tyr		P04541|Q6IAV2	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.S74Y	ENST00000396418.2	37	c.221	CCDS6222.1	8	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842197	0.16963	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.38	3.4	0.38934	.	0.507764	0.18424	N	0.141641	T	0.26085	0.0636	.	.	.	0.27798	N	0.942586	B	0.09022	0.002	B	0.16722	0.016	T	0.14448	-1.0472	7	.	.	.	.	8.3154	0.32097	0.2313:0.6786:0.0:0.0901	.	74	P61925	IPKA_HUMAN	Y	74	.	.	S	+	2	0	PKIA	79676601	0.996000	0.38824	0.995000	0.50966	0.996000	0.88848	2.961000	0.49168	1.273000	0.44346	0.655000	0.94253	TCT	PKIA	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	ENSG00000171033		0.433	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIA	HGNC	protein_coding	OTTHUMT00000379420.1	-	0.00	100	0	C			79514046	+1	tier1	-	no_errors	ENST00000352966	ensembl	human	known	74_37	missense	20.48	66	17	SNP	0.996	A
PLXNA2	5362	genome.wustl.edu	37	1	208227883	208227883	+	Splice_Site	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:208227883C>A	ENST00000367033.3	-	14	3496	c.2739G>T	c.(2737-2739)caG>caT	p.Q913H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	913	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACAGACAATCCTGGGGAGAA	0.562																																																	0													60.0	52.0	55.0					1																	208227883		2203	4300	6503	SO:0001630	splice_region_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2739-1G>T	1.37:g.208227883C>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q913H	ENST00000367033.3	37	c.2739	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181605	0.78677	.	.	ENSG00000076356	ENST00000367033	T	0.77620	-1.11	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.052149	0.85682	D	0.000000	D	0.86543	0.5958	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.87777	0.2609	10	0.72032	D	0.01	.	12.4809	0.55842	0.0:0.9239:0.0:0.0761	.	913	O75051	PLXA2_HUMAN	H	913	ENSP00000356000:Q913H	ENSP00000356000:Q913H	Q	-	3	2	PLXNA2	206294506	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.470000	0.53100	2.514000	0.84764	0.655000	0.94253	CAG	PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	77	0	C	NM_025179	Missense_Mutation	208227883	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	A
POC5	134359	genome.wustl.edu	37	5	75001600	75001601	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:75001600_75001601insCA	ENST00000428202.2	-	4	424_425	c.235_236insTG	c.(235-237)gaafs	p.E79fs	POC5_ENST00000514838.2_Intron|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000446329.2_Frame_Shift_Ins_p.E54fs|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000510798.1_5'UTR	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	79					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCTCTTACTTCAGAGTTATTT	0.292																																																	0																																										SO:0001589	frameshift_variant	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.234_235dupTG	5.37:g.75001601_75001602dupCA	ENSP00000410216:p.Glu79fs		B4DJG7|Q494X7|Q494X9|Q6P085	Frame_Shift_Ins	INS	NULL	p.E79fs	ENST00000428202.2	37	c.236_235	CCDS47236.1	5																																																																																			POC5	-	NULL	ENSG00000152359		0.292	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1		0.00	121	0	-	NM_152408		75001601	-1	tier1		no_errors	ENST00000428202	ensembl	human	known	74_37	frame_shift_ins	10.09	98	11	INS	0.000:0.013	CA
POLR2B	5431	genome.wustl.edu	37	4	57845161	57845161	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:57845161G>T	ENST00000381227.1	+	2	423	c.10G>T	c.(10-12)Gcg>Tcg	p.A4S	POLR2B_ENST00000441246.2_5'UTR|POLR2B_ENST00000431623.2_5'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.A4S|NOA1_ENST00000264230.4_5'Flank			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	4					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATGTACGACGCGGATGAGGG	0.512																																																	0													111.0	106.0	107.0					4																	57845161		2203	4300	6503	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.10G>T	4.37:g.57845161G>T	ENSP00000370625:p.Ala4Ser		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.A4S	ENST00000381227.1	37	c.10	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230223	0.39399	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000314595	T;T	0.76709	-1.04;-1.04	4.79	4.79	0.61399	.	0.447428	0.24927	N	0.034499	T	0.65291	0.2677	N	0.08118	0	0.48571	D	0.999674	P	0.43909	0.821	P	0.46389	0.515	T	0.64015	-0.6506	10	0.21014	T	0.42	.	15.2156	0.73264	0.0:0.0:1.0:0.0	.	4	P30876	RPB2_HUMAN	S	4	ENSP00000370625:A4S;ENSP00000312735:A4S	ENSP00000312735:A4S	A	+	1	0	POLR2B	57539918	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.619000	0.61218	2.639000	0.89480	0.555000	0.69702	GCG	POLR2B	-	NULL	ENSG00000047315		0.512	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	-	0.00	118	0	G	NM_000938		57845161	+1	tier1	-	no_errors	ENST00000314595	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T
POM121L12	285877	genome.wustl.edu	37	7	53103932	53103932	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:53103932G>T	ENST00000408890.4	+	1	584	c.568G>T	c.(568-570)Gct>Tct	p.A190S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	190										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAAGGGAAGCGCTAGGTTCGA	0.701																																																	0													44.0	50.0	48.0					7																	53103932		1948	4134	6082	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.568G>T	7.37:g.53103932G>T	ENSP00000386133:p.Ala190Ser		Q8NDI9	Missense_Mutation	SNP	NULL	p.A190S	ENST00000408890.4	37	c.568	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.460	0.269977	0.10349	.	.	ENSG00000221900	ENST00000408890	T	0.11277	2.79	2.21	-2.51	0.06365	.	.	.	.	.	T	0.04182	0.0116	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42481	-0.9449	9	0.27785	T	0.31	.	0.3179	0.00298	0.4028:0.2275:0.1479:0.2219	.	190	Q8N7R1	P1L12_HUMAN	S	190	ENSP00000386133:A190S	ENSP00000386133:A190S	A	+	1	0	POM121L12	53071426	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.545000	0.06069	-0.454000	0.07066	-2.825000	0.00108	GCT	POM121L12	-	NULL	ENSG00000221900		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1		0.00	54	0	G	NM_182595		53103932	+1			no_errors	ENST00000408890	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
POP1	10940	genome.wustl.edu	37	8	99139843	99139843	+	Nonsense_Mutation	SNP	C	C	T	rs370453487	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:99139843C>T	ENST00000401707.2	+	3	244	c.163C>T	c.(163-165)Cga>Tga	p.R55*	POP1_ENST00000349693.3_Nonsense_Mutation_p.R55*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	55					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGGAACTTCACGACAGCGGCA	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.002																0								C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	107.0	101.0	103.0		163,163,163	0.6	0.3	8		103	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	55/1025,55/1025,55/1025	99139843	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.163C>T	8.37:g.99139843C>T	ENSP00000385787:p.Arg55*		A8K5W9|Q15037	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.R55*	ENST00000401707.2	37	c.163	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988089	0.74589	0.0	1.16E-4	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	.	.	.	5.93	0.632	0.17705	.	0.682203	0.12690	N	0.447221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2685	5.0756	0.14630	0.4842:0.3265:0.1193:0.07	.	.	.	.	X	55	.	ENSP00000339529:R55X	R	+	1	2	POP1	99209019	0.017000	0.18338	0.335000	0.25508	0.701000	0.40568	0.065000	0.14466	-0.171000	0.10797	-0.282000	0.10007	CGA	POP1	-	NULL	ENSG00000104356		0.428	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1		0.00	101	0	C	NM_015029		99139843	+1			no_errors	ENST00000349693	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.035	T
PPIL3	53938	genome.wustl.edu	37	2	201753762	201753762	+	5'UTR	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:201753762C>A	ENST00000392283.4	-	0	115				NIF3L1_ENST00000409020.1_5'Flank|PPIL3_ENST00000409361.1_5'UTR|NIF3L1_ENST00000409357.1_5'Flank|PPIL3_ENST00000286175.8_5'UTR|NIF3L1_ENST00000409588.1_5'Flank|NIF3L1_ENST00000416651.1_5'Flank|PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000465823.1_5'UTR|NIF3L1_ENST00000359683.4_5'Flank	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						TCTGTTGGTTCAAAATTATAG	0.512																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.-154G>T	2.37:g.201753762C>A			Q86WF9|Q96IA9|Q9BXZ1	RNA	SNP	-	NULL	ENST00000392283.4	37	NULL	CCDS2333.1	2																																																																																			PPIL3	-	-	ENSG00000240344		0.512	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL3	HGNC	protein_coding	OTTHUMT00000256190.3	-	0.00	44	0	C			201753762	-1	tier1	-	no_errors	ENST00000465823	ensembl	human	known	74_37	rna	14.81	46	8	SNP	0.000	A
PPP1CC	5501	genome.wustl.edu	37	12	111157945	111157945	+	3'UTR	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:111157945G>A	ENST00000335007.5	-	0	2098				PPP1CC_ENST00000340766.5_Silent_p.Y336Y	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme						cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						TCGGTCACTCGTATAGAACAG	0.363																																																	0													9.0	9.0	9.0					12																	111157945		873	1985	2858	SO:0001624	3_prime_UTR_variant	0				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.*936C>T	12.37:g.111157945G>A				Silent	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Y336	ENST00000335007.5	37	c.1008	CCDS9150.1	12																																																																																			PPP1CC	-	NULL	ENSG00000186298		0.363	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CC	HGNC	protein_coding	OTTHUMT00000404659.1	-	0.00	69	0	G			111157945	-1	tier1	-	no_errors	ENST00000340766	ensembl	human	known	74_37	silent	7.14	51	4	SNP	1.000	A
PRPF38B	55119	genome.wustl.edu	37	1	109235463	109235463	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109235463G>A	ENST00000370025.4	+	1	519	c.250G>A	c.(250-252)Gag>Aag	p.E84K	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.E84K|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	84					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCTACCACGAGGTGGTGGA	0.542																																																	0													103.0	80.0	88.0					1																	109235463		2203	4300	6503	SO:0001583	missense	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.250G>A	1.37:g.109235463G>A	ENSP00000359042:p.Glu84Lys		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	pfam_PRP38	p.E84K	ENST00000370025.4	37	c.250	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.243510	0.95272	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.42	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75878	-0.3162	9	0.66056	D	0.02	.	11.0885	0.48102	0.071:0.1277:0.8013:0.0	.	84	Q5VTL8	PR38B_HUMAN	K	84	.	ENSP00000359039:E84K	E	+	1	0	PRPF38B	109036986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.817000	0.86213	1.226000	0.43582	0.462000	0.41574	GAG	PRPF38B	-	pfam_PRP38	ENSG00000134186		0.542	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1		0.00	45	0	G	NM_018061		109235463	+1			no_errors	ENST00000370025	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
PSAT1	29968	genome.wustl.edu	37	9	80919746	80919746	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:80919746G>T	ENST00000376588.3	+	4	355	c.287G>T	c.(286-288)gGa>gTa	p.G96V	PSAT1_ENST00000347159.2_Missense_Mutation_p.G96V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	96					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGAAAGCAGGAAGGTGTGCT	0.498																																					Colon(34;187 791 10662 18313 37609)												0													118.0	108.0	111.0					9																	80919746		2203	4300	6503	SO:0001583	missense	0			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.287G>T	9.37:g.80919746G>T	ENSP00000365773:p.Gly96Val		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	p.G96V	ENST00000376588.3	37	c.287	CCDS6660.1	9	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770639	0.49680	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.71579	-0.58;-0.58	5.52	2.52	0.30459	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.292824	0.37437	N	0.002100	T	0.76378	0.3979	M	0.69823	2.125	0.44275	D	0.997137	P;P	0.45044	0.799;0.849	P;P	0.47941	0.474;0.562	T	0.80656	-0.1285	10	0.56958	D	0.05	-3.5612	18.4869	0.90833	0.0:0.5858:0.4142:0.0	.	96;96	Q9Y617-2;Q9Y617	.;SERC_HUMAN	V	96	ENSP00000317606:G96V;ENSP00000365773:G96V	ENSP00000317606:G96V	G	+	2	0	PSAT1	80109566	1.000000	0.71417	0.328000	0.25416	0.904000	0.53231	2.092000	0.41700	0.673000	0.31224	0.563000	0.77884	GGA	PSAT1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	ENSG00000135069		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAT1	HGNC	protein_coding	OTTHUMT00000052777.1		0.00	57	0	G	NM_021154		80919746	+1			no_errors	ENST00000376588	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.209	T
PRRC2B	84726	genome.wustl.edu	37	9	134357827	134357827	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:134357827A>G	ENST00000357304.4	+	20	5108	c.5053A>G	c.(5053-5055)Acc>Gcc	p.T1685A	PRRC2B_ENST00000458550.1_Missense_Mutation_p.T991A|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T991A|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1685							poly(A) RNA binding (GO:0044822)	p.T1685A(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTCGTCTGCGACCTCCTCGCA	0.612																																																	1	Substitution - Missense(1)	prostate(1)											125.0	133.0	131.0					9																	134357827		1978	4164	6142	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.5053A>G	9.37:g.134357827A>G	ENSP00000349856:p.Thr1685Ala		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.T1685A	ENST00000357304.4	37	c.5053	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.78|12.78	2.040096|2.040096	0.35989|0.35989	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02498	.|4.27;4.5;4.27	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.42821	.|U	.|0.000648	T|T	0.09069|0.09069	0.0224|0.0224	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.972	.|D;P	.|0.63283	.|0.913;0.728	T|T	0.41124|0.41124	-0.9526|-0.9526	5|10	.|0.24483	.|T	.|0.36	-37.8609|-37.8609	13.7418|13.7418	0.62852|0.62852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|417;1685	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	G|A	417|991;1685;991	.|ENSP00000384606:T991A;ENSP00000349856:T1685A;ENSP00000398853:T991A	.|ENSP00000349856:T1685A	D|T	+|+	2|1	0|0	PRRC2B|PRRC2B	133347648|133347648	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.886000|0.886000	0.51366|0.51366	5.454000|5.454000	0.66651|0.66651	1.846000|1.846000	0.53633|0.53633	0.459000|0.459000	0.35465|0.35465	GAC|ACC	PRRC2B	-	NULL	ENSG00000130723		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0.00	40	0	A			134357827	+1			no_errors	ENST00000357304	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.979	G
PSD	5662	genome.wustl.edu	37	10	104173823	104173823	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:104173823G>C	ENST00000020673.5	-	5	1782	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.S419C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	419					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGGTATAGGAGGTGCCTTT	0.637																																																	0													59.0	65.0	63.0					10																	104173823		2203	4300	6503	SO:0001583	missense	0			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1256C>G	10.37:g.104173823G>C	ENSP00000020673:p.Ser419Cys		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.S419C	ENST00000020673.5	37	c.1256	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787393	0.90367	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.50813	0.73;0.73	5.47	5.47	0.80525	.	0.216830	0.28983	U	0.013519	T	0.57315	0.2045	L	0.34521	1.04	0.49130	D	0.999758	D	0.76494	0.999	P	0.61592	0.891	T	0.55108	-0.8192	10	0.42905	T	0.14	.	19.3875	0.94564	0.0:0.0:1.0:0.0	.	419	A5PKW4	PSD1_HUMAN	C	419;322;419	ENSP00000020673:S419C;ENSP00000384830:S419C	ENSP00000020673:S419C	S	-	2	0	PSD	104163813	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.415000	0.97375	2.594000	0.87642	0.555000	0.69702	TCC	PSD	-	NULL	ENSG00000059915		0.637	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	-	0.00	141	0	G			104173823	-1	tier1	-	no_errors	ENST00000020673	ensembl	human	known	74_37	missense	22.22	112	32	SNP	1.000	C
PSIP1	11168	genome.wustl.edu	37	9	15472611	15472612	+	Intron	INS	-	-	A	rs113876575|rs201263257		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:15472611_15472612insA	ENST00000380733.4	-	10	1321				PSIP1_ENST00000380738.4_Intron|PSIP1_ENST00000397519.2_Intron|PSIP1_ENST00000380716.4_Intron|PSIP1_ENST00000380715.1_Intron			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCAAAATTTAGAAAAAAAAAAA	0.342																																																	0																																										SO:0001627	intron_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.977+17->T	9.37:g.15472622_15472622dupA			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	INS	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-	ENSG00000164985		0.342	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1		0.00	37	0	-	NM_033222		15472612	-1	tier1		no_errors	ENST00000495873	ensembl	human	known	74_37	rna	11.76	30	4	INS	0.001:0.001	A
PTGER3	5733	genome.wustl.edu	37	1	71477991	71477991	+	Silent	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:71477991G>A	ENST00000306666.5	-	2	1284	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	PTGER3_ENST00000460330.1_Silent_p.C358C|PTGER3_ENST00000354608.5_Silent_p.C358C|PTGER3_ENST00000370932.2_Silent_p.C358C|PTGER3_ENST00000370924.4_Silent_p.C358C|PTGER3_ENST00000370931.3_Silent_p.C358C|PTGER3_ENST00000351052.5_Silent_p.C358C|PTGER3_ENST00000356595.4_Silent_p.C358C|PTGER3_ENST00000414819.1_Silent_p.C358C	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	358					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TTGCTACCTGGCAAAACTTTC	0.418																																																	0													99.0	97.0	97.0					1																	71477991		2203	4300	6503	SO:0001819	synonymous_variant	0			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1074C>T	1.37:g.71477991G>A			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.C358	ENST00000306666.5	37	c.1074	CCDS657.1	1																																																																																			PTGER3	-	NULL	ENSG00000050628		0.418	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	-	0.00	57	0	G	NM_000957		71477991	-1	tier1	-	no_errors	ENST00000354608	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	A
PTPRO	5800	genome.wustl.edu	37	12	15673162	15673162	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:15673162T>C	ENST00000281171.4	+	10	2137	c.1807T>C	c.(1807-1809)Tac>Cac	p.Y603H	PTPRO_ENST00000348962.2_Missense_Mutation_p.Y603H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	603	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCCAGCATGGTACTACAACTT	0.463																																																	0													130.0	122.0	125.0					12																	15673162		2203	4300	6503	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1807T>C	12.37:g.15673162T>C	ENSP00000281171:p.Tyr603His		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y603H	ENST00000281171.4	37	c.1807	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356643	0.82243	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.53857	0.6;0.6	5.34	5.34	0.76211	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000341	T	0.53786	0.1818	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.63381	0.914;0.823	T	0.46952	-0.9154	10	0.17369	T	0.5	.	14.0453	0.64702	0.0:0.0:0.0:1.0	.	603;603	Q16827-2;Q16827	.;PTPRO_HUMAN	H	603	ENSP00000281171:Y603H;ENSP00000343434:Y603H	ENSP00000281171:Y603H	Y	+	1	0	PTPRO	15564429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.172000	0.77604	2.240000	0.73641	0.533000	0.62120	TAC	PTPRO	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000151490		0.463	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1		0.00	33	0	T			15673162	+1			no_errors	ENST00000281171	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C
PXK	54899	genome.wustl.edu	37	3	58376920	58376920	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:58376920G>T	ENST00000356151.2	+	6	622	c.513G>T	c.(511-513)caG>caT	p.Q171H	PXK_ENST00000484288.1_Missense_Mutation_p.Q171H|PXK_ENST00000383715.4_Missense_Mutation_p.Q154H|PXK_ENST00000536660.1_Missense_Mutation_p.Q34H|PXK_ENST00000383716.3_Missense_Mutation_p.Q138H|PXK_ENST00000479241.1_Missense_Mutation_p.Q154H|PXK_ENST00000302779.5_Missense_Mutation_p.Q154H|PXK_ENST00000463280.1_Missense_Mutation_p.Q138H	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTAAAAATCAGCCAAAGGAAC	0.373																																																	0													94.0	99.0	97.0					3																	58376920		2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.513G>T	3.37:g.58376920G>T	ENSP00000348472:p.Gln171His			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.Q171H	ENST00000356151.2	37	c.513	CCDS2889.1	3	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772690	0.69992	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T;T;T;T;T;T;T;T	0.33654	2.18;2.17;2.17;1.43;1.43;1.44;1.4;2.17	5.64	2.36	0.29203	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054363	0.85682	D	0.000000	T	0.48390	0.1497	M	0.64997	1.995	0.58432	D	0.999998	P;D;P;D;D;D	0.65815	0.947;0.991;0.947;0.993;0.995;0.986	P;P;B;P;P;P	0.60236	0.556;0.835;0.339;0.818;0.871;0.794	T	0.36237	-0.9756	10	0.51188	T	0.08	-13.9652	9.156	0.36994	0.3851:0.0:0.6149:0.0	.	138;138;138;171;154;171	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	H	171;154;138;138;154;171;154;34;34	ENSP00000348472:Q171H;ENSP00000305045:Q154H;ENSP00000373222:Q138H;ENSP00000417903:Q138H;ENSP00000373221:Q154H;ENSP00000417915:Q171H;ENSP00000419049:Q154H;ENSP00000438356:Q34H	ENSP00000305045:Q154H	Q	+	3	2	PXK	58351960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.550000	0.45811	0.151000	0.19162	0.563000	0.77884	CAG	PXK	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.373	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0.00	70	0	G	NM_017771		58376920	+1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
PVRL3	25945	genome.wustl.edu	37	3	110852683	110852683	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:110852683G>T	ENST00000485303.1	+	6	1546	c.1271G>T	c.(1270-1272)gGa>gTa	p.G424V	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	424					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTTGGCTGGAATATTCTGC	0.408																																																	0													160.0	158.0	159.0					3																	110852683		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1271G>T	3.37:g.110852683G>T	ENSP00000418070:p.Gly424Val		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G424V	ENST00000485303.1	37	c.1271	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794889	0.16327	.	.	ENSG00000177707	ENST00000485303	T	0.13538	2.58	5.88	5.88	0.94601	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.100314	0.64402	D	0.000002	T	0.23054	0.0557	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01105	-1.1450	10	0.02654	T	1	.	17.7895	0.88547	0.0:0.0:1.0:0.0	.	424	Q9NQS3	PVRL3_HUMAN	V	424	ENSP00000418070:G424V	ENSP00000418070:G424V	G	+	2	0	PVRL3	112335373	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.552000	0.90682	2.805000	0.96524	0.461000	0.40582	GGA	PVRL3	-	NULL	ENSG00000177707		0.408	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1		0.00	60	0	G	NM_015480		110852683	+1			no_errors	ENST00000485303	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
RABGGTB	5876	genome.wustl.edu	37	1	76257240	76257240	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:76257240A>G	ENST00000319942.3	+	6	634	c.563A>G	c.(562-564)gAa>gGa	p.E188G	RABGGTB_ENST00000535300.1_Missense_Mutation_p.E14G|RABGGTB_ENST00000496055.1_3'UTR|SNORD45B_ENST00000364617.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	188					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						CCAGGTTCTGAATCCCATGCT	0.368																																																	0													138.0	133.0	135.0					1																	76257240		2203	4300	6503	SO:0001583	missense	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.563A>G	1.37:g.76257240A>G	ENSP00000317473:p.Glu188Gly		Q92697	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.E188G	ENST00000319942.3	37	c.563	CCDS669.1	1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889250	0.91889	.	.	ENSG00000137955	ENST00000535300;ENST00000319942;ENST00000370824	T;T	0.55588	0.51;0.51	5.2	5.2	0.72013	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89155	0.3526	10	0.87932	D	0	-0.052	15.0811	0.72117	1.0:0.0:0.0:0.0	.	188;188	Q59GT6;P53611	.;PGTB2_HUMAN	G	14;188;188	ENSP00000440452:E14G;ENSP00000317473:E188G	ENSP00000317473:E188G	E	+	2	0	RABGGTB	76029828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	1.961000	0.56991	0.459000	0.35465	GAA	RABGGTB	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000137955		0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	-	0.00	52	0	A	NM_004582		76257240	+1	tier1	-	no_errors	ENST00000319942	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	G
RANBP2	5903	genome.wustl.edu	37	2	109367786	109367786	+	Missense_Mutation	SNP	T	T	C	rs539147212	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:109367786T>C	ENST00000283195.6	+	10	1466	c.1340T>C	c.(1339-1341)tTg>tCg	p.L447S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	447					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGAATTCATTGCCTGCTTTA	0.393													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17012	0.0		0.0	False		,,,				2504	0.0																0													26.0	29.0	28.0					2																	109367786		1447	2645	4092	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1340T>C	2.37:g.109367786T>C	ENSP00000283195:p.Leu447Ser		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.L447S	ENST00000283195.6	37	c.1340	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118429	0.56505	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.85702	-2.02	5.08	5.08	0.68730	.	.	.	.	.	D	0.82715	0.5097	L	0.50333	1.59	0.09310	N	1	B	0.32245	0.361	B	0.31686	0.134	T	0.77310	-0.2635	9	0.87932	D	0	-4.3156	15.1418	0.72615	0.0:0.0:0.0:1.0	.	447	P49792	RBP2_HUMAN	S	447	ENSP00000283195:L447S	ENSP00000283195:L447S	L	+	2	0	RANBP2	108734218	0.947000	0.32204	0.996000	0.52242	0.965000	0.64279	4.075000	0.57584	2.039000	0.60335	0.528000	0.53228	TTG	RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0.00	455	0	T	NM_006267		109367786	+1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	21.81	336	94	SNP	0.027	C
RBM5	10181	genome.wustl.edu	37	3	50129549	50129549	+	Silent	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:50129549C>A	ENST00000347869.3	+	3	266	c.91C>A	c.(91-93)Cga>Aga	p.R31R	RBM5_ENST00000469838.1_Silent_p.R31R	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	31					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGTGAATCCCGAAGCAGGCG	0.468																																																	0													130.0	122.0	125.0					3																	50129549		2203	4300	6503	SO:0001819	synonymous_variant	0			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.91C>A	3.37:g.50129549C>A			B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R31	ENST00000347869.3	37	c.91	CCDS2810.1	3																																																																																			RBM5	-	NULL	ENSG00000003756		0.468	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3		0.00	98	0	C	NM_005778		50129549	+1			no_errors	ENST00000347869	ensembl	human	known	74_37	silent	5.26	71	4	SNP	0.620	A
RBMX2	51634	genome.wustl.edu	37	X	129536265	129536265	+	Silent	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:129536265T>C	ENST00000305536.6	+	2	106	c.42T>C	c.(40-42)aaT>aaC	p.N14N	RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_Silent_p.N14N	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	14							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACGAGCTGAATGAACGAGAGG	0.572																																																	0													42.0	38.0	39.0					X																	129536265		1922	4107	6029	SO:0001819	synonymous_variant	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.42T>C	X.37:g.129536265T>C			A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N14	ENST00000305536.6	37	c.42	CCDS43993.1	X																																																																																			RBMX2	-	NULL	ENSG00000134597		0.572	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	-	0.00	68	0	T	NM_016024		129536265	+1	tier1	-	no_errors	ENST00000305536	ensembl	human	known	74_37	silent	35.90	25	14	SNP	1.000	C
REG3A	5068	genome.wustl.edu	37	2	79385795	79385795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:79385795delT	ENST00000409839.3	-	3	213	c.177delA	c.(175-177)aaafs	p.K59fs	REG3A_ENST00000393878.1_Frame_Shift_Del_p.K59fs|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Frame_Shift_Del_p.K59fs	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	59	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTGTCCAGGATTTTGGTGACA	0.552																																																	0													126.0	115.0	119.0					2																	79385795		2203	4300	6503	SO:0001589	frameshift_variant	0			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.177delA	2.37:g.79385795delT	ENSP00000386630:p.Lys59fs			Frame_Shift_Del	DEL	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K59fs	ENST00000409839.3	37	c.177	CCDS1965.1	2																																																																																			REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172016		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2		0.00	36	0	T	NM_002580		79385795	-1	tier1		no_errors	ENST00000305165	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.021	-
RHPN1	114822	genome.wustl.edu	37	8	144450249	144450249	+	5'Flank	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:144450249G>T	ENST00000289013.6	+	0	0				RHPN1-AS1_ENST00000518049.1_RNA|RHPN1-AS1_ENST00000596598.1_RNA	NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1						signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGCTCTGGAAGTAAAGAGATT	0.498																																																	0																																										SO:0001631	upstream_gene_variant	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006		8.37:g.144450249G>T	Exception_encountered		Q8TAV1|Q96PV9	RNA	SNP	-	NULL	ENST00000289013.6	37	NULL	CCDS47927.1	8																																																																																			RHPN1-AS1	-	-	ENSG00000254389		0.498	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1-AS1	HGNC	protein_coding	OTTHUMT00000381417.1		0.00	62	0	G			144450249	-1			no_errors	ENST00000518049	ensembl	human	known	74_37	rna	5.06	75	4	SNP	0.000	T
RIMKLA	284716	genome.wustl.edu	37	1	42865151	42865151	+	Silent	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:42865151G>A	ENST00000431473.3	+	2	369	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	80					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTCAGTGCAGTCAGACAGTG	0.537																																																	0													60.0	50.0	54.0					1																	42865151		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.240G>A	1.37:g.42865151G>A			Q5VUS5	Silent	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.Q80	ENST00000431473.3	37	c.240	CCDS466.2	1																																																																																			RIMKLA	-	tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000177181		0.537	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3	-	0.00	45	0	G	NM_173642		42865151	+1	tier1	-	no_errors	ENST00000431473	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	A
GOLGA8DP	100132979	genome.wustl.edu	37	15	22706891	22706891	+	RNA	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:22706891C>T	ENST00000314246.8	-	0	1559				RN7SL545P_ENST00000495815.2_RNA|AC116165.1_ENST00000408073.1_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GAGGAATGAGCTGCTGTTATT	0.517																																																	0																																												0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22706891C>T				RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15																																																																																			RN7SL545P	-	-	ENSG00000241034		0.517	GOLGA8DP-002	KNOWN	basic	processed_transcript	RN7SL545P	HGNC	pseudogene	OTTHUMT00000415613.1	-	0.00	30	0	C	NR_027407		22706891	-1	tier1	-	no_errors	ENST00000495815	ensembl	human	known	74_37	rna	17.95	32	7	SNP	0.771	T
RPGRIP1L	23322	genome.wustl.edu	37	16	53652936	53652936	+	Splice_Site	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:53652936C>A	ENST00000379925.3	-	24	3667		c.e24+1		RPGRIP1L_ENST00000262135.4_Splice_Site|RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCATACATACCATTGCTATA	0.353																																																	0													88.0	88.0	88.0					16																	53652936		2198	4300	6498	SO:0001630	splice_region_variant	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3616+1G>T	16.37:g.53652936C>A			A0PJ88|Q9Y2K8	Splice_Site	SNP	-	e23+1	ENST00000379925.3	37	c.3616+1	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273540	0.23221	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3325	0.98724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPGRIP1L	52210437	1.000000	0.71417	0.999000	0.59377	0.186000	0.23388	5.925000	0.70062	2.805000	0.96524	0.655000	0.94253	.	RPGRIP1L	-	-	ENSG00000103494		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	-	0.00	59	0	C	NM_015272	Intron	53652936	-1	tier1	-	no_errors	ENST00000379925	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	A
RTL1	388015	genome.wustl.edu	37	14	101349583	101349583	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:101349583C>T	ENST00000534062.1	-	1	1601	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	515					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CAGTCGACTTCGGGGGCGTGG	0.597																																																	0													37.0	40.0	39.0					14																	101349583		692	1591	2283	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1543G>A	14.37:g.101349583C>T	ENSP00000435342:p.Glu515Lys		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.E515K	ENST00000534062.1	37	c.1543	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664290	0.14710	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.83	3.83	0.44106	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	P	0.43352	0.804	B	0.25140	0.058	T	0.05954	-1.0854	9	0.09338	T	0.73	.	9.7169	0.40281	0.0:0.7888:0.2112:0.0	.	515	E9PKS8	.	K	515	ENSP00000435342:E515K	ENSP00000435342:E515K	E	-	1	0	RTL1	100419336	0.292000	0.24362	0.052000	0.19188	0.627000	0.37826	1.779000	0.38624	2.435000	0.82474	0.655000	0.94253	GAA	RTL1	-	superfamily_Peptidase_aspartic_dom	ENSG00000254656		0.597	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0.00	63	0	C	NM_001134888		101349583	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.102	T
RYR2	6262	genome.wustl.edu	37	1	237664074	237664074	+	Missense_Mutation	SNP	G	G	T	rs193922623		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:237664074G>T	ENST00000366574.2	+	21	2584	c.2267G>T	c.(2266-2268)aGt>aTt	p.S756I	RYR2_ENST00000360064.6_Missense_Mutation_p.S754I|RYR2_ENST00000542537.1_Missense_Mutation_p.S740I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	756	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTCATCAGTTGCTGTTTA	0.408																																																	0													302.0	285.0	290.0					1																	237664074		1924	4135	6059	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2267G>T	1.37:g.237664074G>T	ENSP00000355533:p.Ser756Ile		Q15411|Q546N8|Q5T3P2	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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S754I	ENST00000366574.2	37	c.2261	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.114441	0.94339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86723	0.1943	10	0.72032	D	0.01	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	756	Q92736	RYR2_HUMAN	I	756;754;740	ENSP00000355533:S756I;ENSP00000353174:S754I;ENSP00000443798:S740I	ENSP00000353174:S754I	S	+	2	0	RYR2	235730697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.805000	0.99149	2.726000	0.93360	0.650000	0.86243	AGT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	69	0	G	NM_001035		237664074	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71364724	71364724	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:71364724G>C	ENST00000392650.3	-	37	4989	c.4989C>G	c.(4987-4989)ttC>ttG	p.F1663L	SDK2_ENST00000388726.3_Missense_Mutation_p.F1644L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1663	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGCTTCCCAGAAATAAATCT	0.552																																																	0													31.0	29.0	29.0					17																	71364724		2203	4296	6499	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4989C>G	17.37:g.71364724G>C	ENSP00000376421:p.Phe1663Leu		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F1663L	ENST00000392650.3	37	c.4989	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425863	0.43020	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.55588	0.51;0.51;0.51	4.69	3.64	0.41730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052842	0.85682	D	0.000000	T	0.36441	0.0967	N	0.20304	0.555	0.38780	D	0.954755	B;B;B	0.16802	0.019;0.005;0.002	B;B;B	0.14578	0.011;0.008;0.008	T	0.41305	-0.9516	10	0.87932	D	0	.	10.9651	0.47408	0.1502:0.0:0.8498:0.0	.	1663;1663;1644	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1287;1663;1644;820;1663;4	ENSP00000376421:F1663L;ENSP00000373378:F1644L;ENSP00000407098:F820L	ENSP00000324967:F1663L	F	-	3	2	SDK2	68876319	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.915000	0.28638	2.432000	0.82394	0.563000	0.77884	TTC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.552	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2		0.00	32	0	G	NM_019064		71364724	-1			no_errors	ENST00000392650	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	C
SEMA3A	10371	genome.wustl.edu	37	7	83634710	83634710	+	Silent	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:83634710G>C	ENST00000265362.4	-	11	1619	c.1305C>G	c.(1303-1305)gtC>gtG	p.V435V	SEMA3A_ENST00000436949.1_Silent_p.V435V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	435	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		V -> I (in HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1; dbSNP:rs147436181). {ECO:0000269|PubMed:22927827}.		apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCGGTCTACGACAATTTGTG	0.363																																																	0													197.0	176.0	183.0					7																	83634710		2203	4300	6503	SO:0001819	synonymous_variant	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1305C>G	7.37:g.83634710G>C				Silent	SNP	pfam_Semap_dom,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.V435	ENST00000265362.4	37	c.1305	CCDS5599.1	7																																																																																			SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.363	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0.00	85	0	G	NM_006080		83634710	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	33.06	81	40	SNP	0.982	C
SFXN2	118980	genome.wustl.edu	37	10	104489519	104489519	+	Missense_Mutation	SNP	G	G	A	rs376492604		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:104489519G>A	ENST00000369893.5	+	6	714	c.547G>A	c.(547-549)Gct>Act	p.A183T		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	183				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCCTTTGCCGCTGTGGCTGC	0.567											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	THR/ALA	0,4406		0,0,2203	76.0	83.0	81.0		547	5.7	0.5	10		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN2	NM_178858.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	183/323	104489519	1,13005	2203	4300	6503	SO:0001583	missense	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.547G>A	10.37:g.104489519G>A	ENSP00000358909:p.Ala183Thr	1382	Q5JSM6	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.A183T	ENST00000369893.5	37	c.547	CCDS7539.1	10	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470027	0.84533	0.0	1.16E-4	ENSG00000156398	ENST00000369893	T	0.55052	0.54	5.7	5.7	0.88788	.	0.046672	0.85682	D	0.000000	T	0.82153	0.4975	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87018	0.2127	10	0.87932	D	0	-17.3007	19.8314	0.96638	0.0:0.0:1.0:0.0	.	183	Q96NB2	SFXN2_HUMAN	T	183	ENSP00000358909:A183T	ENSP00000358909:A183T	A	+	1	0	SFXN2	104479509	1.000000	0.71417	0.459000	0.27081	0.114000	0.19823	7.913000	0.87471	2.675000	0.91044	0.655000	0.94253	GCT	SFXN2	-	pfam_Mtc,tigrfam_Mtc	ENSG00000156398		0.567	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	-	0.00	56	0	G	XM_058359		104489519	+1	tier1	-	no_errors	ENST00000369893	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	A
SGCZ	137868	genome.wustl.edu	37	8	14412433	14412433	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:14412433C>G	ENST00000382080.1	-	2	757	c.42G>C	c.(40-42)atG>atC	p.M14I	SGCZ_ENST00000421524.2_Start_Codon_SNP_p.M1I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	1					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTTCTCGTGTCATCTGaaaaa	0.343																																																	0													167.0	161.0	163.0					8																	14412433		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.42G>C	8.37:g.14412433C>G	ENSP00000371512:p.Met14Ile		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.M14I	ENST00000382080.1	37	c.42	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373141	0.42105	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;T	0.86865	-2.18;1.49	4.99	4.99	0.66335	.	0.114616	0.85682	D	0.000000	D	0.84683	0.5526	.	.	.	0.80722	D	1	B;B	0.17038	0.012;0.02	B;B	0.12156	0.004;0.007	T	0.81609	-0.0855	9	0.72032	D	0.01	.	18.1557	0.89690	0.0:1.0:0.0:0.0	.	1;14	Q08AT0;Q96LD1-2	.;.	I	14;1	ENSP00000371512:M14I;ENSP00000405224:M1I	ENSP00000371512:M14I	M	-	3	0	SGCZ	14456804	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.569000	0.60865	2.708000	0.92522	0.650000	0.86243	ATG	SGCZ	-	NULL	ENSG00000185053		0.343	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	-	0.00	64	0	C	NM_139167		14412433	-1	tier1	-	no_errors	ENST00000382080	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	G
SGK3	23678	genome.wustl.edu	37	8	67716673	67716673	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:67716673T>A	ENST00000396596.1	+	4	458	c.244T>A	c.(244-246)Ttt>Att	p.F82I	SGK3_ENST00000345714.4_Missense_Mutation_p.F82I|SGK3_ENST00000520976.1_Missense_Mutation_p.F82I|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.F82I|SGK3_ENST00000522398.1_Missense_Mutation_p.F82I|SGK3_ENST00000521198.2_Missense_Mutation_p.F82I	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	82	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTGATAATTTTGATCCAGG	0.313																																																	0													72.0	77.0	75.0					8																	67716673		2203	4300	6503	SO:0001583	missense	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.244T>A	8.37:g.67716673T>A	ENSP00000379842:p.Phe82Ile		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom	p.F82I	ENST00000396596.1	37	c.244	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019798	0.93462	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714;ENST00000521152	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.39	5.39	0.77823	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.84683	2.71	0.45342	D	0.998331	P;D	0.54964	0.936;0.969	P;P	0.56563	0.758;0.801	T	0.75016	-0.3466	9	0.62326	D	0.03	.	14.686	0.69049	0.0:0.0:0.0:1.0	.	82;82	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	I	82;82;82;15;82;82;82;82;82;82;15	ENSP00000429022:F82I;ENSP00000430463:F82I;ENSP00000430475:F15I;ENSP00000430256:F82I;ENSP00000429606:F82I;ENSP00000430691:F82I;ENSP00000379842:F82I;ENSP00000428972:F82I;ENSP00000331816:F82I;ENSP00000429565:F15I	ENSP00000262211:F82I	F	+	1	0	SGK3	67879227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.185000	0.77714	2.176000	0.68965	0.533000	0.62120	TTT	SGK3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000104205		0.313	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	-	0.00	202	0	T			67716673	+1	tier1	-	no_errors	ENST00000345714	ensembl	human	known	74_37	missense	21.76	169	47	SNP	1.000	A
SHANK2	22941	genome.wustl.edu	37	11	70332599	70332599	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:70332599G>T	ENST00000423696.2	-	15	2698	c.2662C>A	c.(2662-2664)Cag>Aag	p.Q888K	SHANK2_ENST00000409161.1_Missense_Mutation_p.Q671K|SHANK2_ENST00000338508.4_Missense_Mutation_p.Q1268K|SHANK2_ENST00000449833.2_Missense_Mutation_p.Q672K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	888					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGGTGTTCTGCCTGGTGACC	0.597																																																	0													75.0	81.0	79.0					11																	70332599		2200	4294	6494	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2662C>A	11.37:g.70332599G>T	ENSP00000394536:p.Gln888Lys		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Q1268K	ENST00000423696.2	37	c.3802		11	.	.	.	.	.	.	.	.	.	.	G	2.041	-0.420114	0.04734	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.09	5.09	0.68999	.	0.347524	0.34802	N	0.003671	T	0.26412	0.0645	L	0.60455	1.87	0.80722	D	1	B;P;P	0.44776	0.212;0.843;0.51	B;P;B	0.45406	0.114;0.479;0.228	T	0.05566	-1.0877	10	0.06625	T	0.88	.	18.4864	0.90831	0.0:0.0:1.0:0.0	.	888;1267;672	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	672;671;546;1268;888;906;891	ENSP00000399423:Q672K;ENSP00000386491:Q671K;ENSP00000402944:Q546K;ENSP00000345193:Q1268K;ENSP00000394536:Q888K;ENSP00000294018:Q891K	ENSP00000294018:Q891K	Q	-	1	0	SHANK2	70010247	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	9.227000	0.95236	2.354000	0.79902	0.561000	0.74099	CAG	SHANK2	-	NULL	ENSG00000162105		0.597	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		-	0.00	63	0	G	NM_012309		70332599	-1	tier1	-	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	7.58	195	16	SNP	1.000	T
SIN3A	25942	genome.wustl.edu	37	15	75693273	75693273	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:75693273G>T	ENST00000394947.3	-	11	1849	c.1535C>A	c.(1534-1536)cCt>cAt	p.P512H	SIN3A_ENST00000360439.4_Missense_Mutation_p.P512H|SIN3A_ENST00000394949.4_Missense_Mutation_p.P512H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAACAACTCAGGGAATTTCCT	0.418																																																	0													44.0	44.0	44.0					15																	75693273		2197	4294	6491	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1535C>A	15.37:g.75693273G>T	ENSP00000378402:p.Pro512His			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.P512H	ENST00000394947.3	37	c.1535	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783303	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.52754	0.65;0.65;0.65	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79186	-0.1907	10	0.87932	D	0	-15.4982	19.2837	0.94061	0.0:0.0:1.0:0.0	.	512	Q96ST3	SIN3A_HUMAN	H	512	ENSP00000378402:P512H;ENSP00000378403:P512H;ENSP00000353622:P512H	ENSP00000353622:P512H	P	-	2	0	SIN3A	73480326	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.867000	0.99620	2.805000	0.96524	0.460000	0.39030	CCT	SIN3A	-	pfam_PAH,superfamily_PAH	ENSG00000169375		0.418	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0.00	63	0	G	NM_015477		75693273	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
SLC16A14	151473	genome.wustl.edu	37	2	230910801	230910801	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:230910801C>T	ENST00000295190.4	-	4	1499	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	347						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTTTTGCTCCGATAAGTTAT	0.423																																																	0													75.0	71.0	72.0					2																	230910801		2203	4300	6503	SO:0001819	synonymous_variant	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1041G>A	2.37:g.230910801C>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S347	ENST00000295190.4	37	c.1041	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.423	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0.00	94	0	C	NM_152527		230910801	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.293	T
SLC20A2	6575	genome.wustl.edu	37	8	42329774	42329774	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:42329774C>T	ENST00000342228.3	-	2	504	c.135G>A	c.(133-135)agG>agA	p.R45R	SLC20A2_ENST00000520262.1_Silent_p.R45R|SLC20A2_ENST00000520179.1_Silent_p.R45R	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	45					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGCATGCCTGCCTCAAGGTCA	0.483																																																	0													188.0	170.0	176.0					8																	42329774		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.135G>A	8.37:g.42329774C>T				Silent	SNP	pfam_Phos_transporter	p.R45	ENST00000342228.3	37	c.135	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.483	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1		0.00	59	0	C			42329774	-1			no_errors	ENST00000342228	ensembl	human	known	74_37	silent	5.06	73	4	SNP	1.000	T
SLC7A14	57709	genome.wustl.edu	37	3	170198523	170198523	+	Missense_Mutation	SNP	C	C	T	rs115446306		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:170198523C>T	ENST00000231706.5	-	7	1863	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	516					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCCTGTGGTCATGTCCACGG	0.458																																																	0													195.0	197.0	196.0					3																	170198523		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1548G>A	3.37:g.170198523C>T	ENSP00000231706:p.Met516Ile		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.M516I	ENST00000231706.5	37	c.1548	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675558	0.29783	.	.	ENSG00000013293	ENST00000231706	D	0.86769	-2.17	5.6	4.64	0.57946	.	0.205005	0.64402	N	0.000014	T	0.82231	0.4992	L	0.44542	1.39	0.51012	D	0.9999	B	0.16396	0.017	B	0.11329	0.006	T	0.76233	-0.3034	10	0.27082	T	0.32	.	14.0878	0.64971	0.0:0.922:0.0:0.078	.	516	Q8TBB6	S7A14_HUMAN	I	516	ENSP00000231706:M516I	ENSP00000231706:M516I	M	-	3	0	SLC7A14	171681217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.547000	0.36190	1.194000	0.43101	0.655000	0.94253	ATG	SLC7A14	-	NULL	ENSG00000013293		0.458	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0.00	39	0	C	NM_020949		170198523	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	5.75	344	21	SNP	1.000	T
SLC8A2	6543	genome.wustl.edu	37	19	47935592	47935592	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:47935592G>A	ENST00000236877.6	-	9	2616	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	SLC8A2_ENST00000539381.1_Missense_Mutation_p.P204S|SLC8A2_ENST00000542837.1_Missense_Mutation_p.P497S|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	741					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCGGTGGGGGGCACACAGGCG	0.652																																																	0													101.0	87.0	91.0					19																	47935592		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2221C>T	19.37:g.47935592G>A	ENSP00000236877:p.Pro741Ser		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P741S	ENST00000236877.6	37	c.2221	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199735	0.79015	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.70399	0.97;-0.48;0.83	4.23	4.23	0.50019	.	0.000000	0.64402	D	0.000003	D	0.88496	0.6452	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92091	0.5680	10	0.87932	D	0	.	15.9664	0.79974	0.0:0.0:1.0:0.0	.	569;741	E9PGS7;Q9UPR5	.;NAC2_HUMAN	S	569;741;204;497	ENSP00000236877:P741S;ENSP00000440588:P204S;ENSP00000437536:P497S	ENSP00000236877:P741S	P	-	1	0	SLC8A2	52627404	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	9.619000	0.98369	2.377000	0.81083	0.558000	0.71614	CCC	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.652	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1		0.00	72	0	G			47935592	-1			no_errors	ENST00000236877	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
SLX4IP	128710	genome.wustl.edu	37	20	10579382	10579382	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:10579382A>G	ENST00000334534.5	+	5	478	c.298A>G	c.(298-300)Agg>Ggg	p.R100G		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	100																	TCGCTGCATCAGGAGCACACA	0.428																																																	0													114.0	101.0	105.0					20																	10579382		2203	4300	6503	SO:0001583	missense	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.298A>G	20.37:g.10579382A>G	ENSP00000335557:p.Arg100Gly		Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.R100G	ENST00000334534.5	37	c.298	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	A	9.695	1.152853	0.21371	.	.	ENSG00000149346	ENST00000334534	T	0.21932	1.98	5.31	-10.6	0.00265	.	1.282160	0.05064	N	0.480310	T	0.08980	0.0222	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	10	0.22109	T	0.4	7.6013	7.5402	0.27733	0.1265:0.1605:0.5692:0.1439	.	100	Q5VYV7	CT094_HUMAN	G	100	ENSP00000335557:R100G	ENSP00000335557:R100G	R	+	1	2	C20orf94	10527382	0.000000	0.05858	0.000000	0.03702	0.377000	0.30045	-0.547000	0.06055	-2.347000	0.00620	-1.155000	0.01812	AGG	SLX4IP	-	NULL	ENSG00000149346		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	-	0.00	60	0	A	NM_001009608		10579382	+1	tier1	-	no_errors	ENST00000334534	ensembl	human	known	74_37	missense	16.46	66	13	SNP	0.000	G
RIBC2	26150	genome.wustl.edu	37	22	45809379	45809379	+	5'Flank	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:45809379A>G	ENST00000342894.3	+	0	0				RIBC2_ENST00000538017.1_5'Flank|SMC1B_ENST00000357450.4_Missense_Mutation_p.F24L|SMC1B_ENST00000404354.3_Missense_Mutation_p.F24L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AACCTCCGGAAGGGGCCAATG	0.672																																																	0													22.0	29.0	27.0					22																	45809379		1944	4133	6077	SO:0001631	upstream_gene_variant	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332		22.37:g.45809379A>G	Exception_encountered		Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.F24L	ENST00000342894.3	37	c.70		22	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018486	0.54576	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09350	2.99;3.21	4.71	4.71	0.59529	.	0.000000	0.46442	U	0.000298	T	0.10508	0.0257	L	0.31664	0.95	0.54753	D	0.999988	B;P	0.40398	0.281;0.716	B;B	0.41666	0.363;0.24	T	0.23119	-1.0197	10	0.29301	T	0.29	.	14.1814	0.65577	1.0:0.0:0.0:0.0	.	24;24	Q8NDV3-2;Q8NDV3-3	.;.	L	24	ENSP00000350036:F24L;ENSP00000385902:F24L	ENSP00000350036:F24L	F	-	1	0	SMC1B	44188043	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.799000	0.75160	1.733000	0.51620	0.455000	0.32223	TTC	SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.672	RIBC2-001	KNOWN	basic	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322250.1		0.00	18	0	A	NM_015653		45809379	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	missense	9.76	36	4	SNP	1.000	G
SMEK2	57223	genome.wustl.edu	37	2	55825825	55825825	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:55825825A>T	ENST00000345102.5	-	4	949	c.648T>A	c.(646-648)gaT>gaA	p.D216E	SMEK2_ENST00000272313.5_Missense_Mutation_p.D216E|SMEK2_ENST00000407823.3_Missense_Mutation_p.D216E	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	216					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGATACACTCATCAGAAAACA	0.378																																																	0													89.0	88.0	88.0					2																	55825825		2203	4300	6503	SO:0001583	missense	0			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.648T>A	2.37:g.55825825A>T	ENSP00000339769:p.Asp216Glu		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.D216E	ENST00000345102.5	37	c.648	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439361	0.43326	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.55052	0.54;0.54;0.54	5.59	4.32	0.51571	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.28054	0.825	0.58432	D	0.999997	B;B;B;B	0.27316	0.014;0.082;0.014;0.175	B;B;B;B	0.37304	0.016;0.209;0.036;0.246	T	0.23048	-1.0199	10	0.27785	T	0.31	-15.7032	9.2722	0.37679	0.8286:0.0:0.1714:0.0	.	216;216;216;216	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	E	216	ENSP00000272313:D216E;ENSP00000385912:D216E;ENSP00000339769:D216E	ENSP00000272313:D216E	D	-	3	2	SMEK2	55679329	0.842000	0.29525	1.000000	0.80357	0.999000	0.98932	0.024000	0.13555	0.978000	0.38470	0.533000	0.62120	GAT	SMEK2	-	pfam_DUF625,superfamily_ARM-type_fold	ENSG00000138041		0.378	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1		0.00	75	0	A	NM_020463		55825825	-1			no_errors	ENST00000272313	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
SNAP91	9892	genome.wustl.edu	37	6	84269886	84269886	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:84269886C>T	ENST00000439399.2	-	28	2884	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	SNAP91_ENST00000428679.2_Silent_p.P856P|SNAP91_ENST00000437520.1_Silent_p.P549P|SNAP91_ENST00000520302.1_Silent_p.P826P|SNAP91_ENST00000521743.1_Silent_p.P856P|SNAP91_ENST00000369694.2_Silent_p.P856P|SNAP91_ENST00000521485.1_Silent_p.P851P|SNAP91_ENST00000520213.1_Silent_p.P549P|SNAP91_ENST00000195649.6_Silent_p.P851P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	856	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAAACATGACCGGCTGCTGAG	0.547																																																	0													69.0	70.0	70.0					6																	84269886		1977	4159	6136	SO:0001819	synonymous_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2568G>A	6.37:g.84269886C>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P856	ENST00000439399.2	37	c.2568	CCDS47455.1	6																																																																																			SNAP91	-	NULL	ENSG00000065609		0.547	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0.00	46	0	C			84269886	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.003	T
SORCS3	22986	genome.wustl.edu	37	10	107015536	107015536	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:107015536T>C	ENST00000369701.3	+	24	3541	c.3314T>C	c.(3313-3315)gTg>gCg	p.V1105A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1105					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)												0													113.0	98.0	103.0					10																	107015536		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3314T>C	10.37:g.107015536T>C	ENSP00000358715:p.Val1105Ala		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V1105A	ENST00000369701.3	37	c.3314	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950583	0.92660	.	.	ENSG00000156395	ENST00000369701	T	0.25085	1.82	5.73	5.73	0.89815	.	0.066185	0.64402	D	0.000010	T	0.49133	0.1539	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.39981	-0.9587	9	.	.	.	.	16.3265	0.82983	0.0:0.0:0.0:1.0	.	1105	Q9UPU3	SORC3_HUMAN	A	1105	ENSP00000358715:V1105A	.	V	+	2	0	SORCS3	107005526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.833000	0.62766	2.313000	0.78055	0.455000	0.32223	GTG	SORCS3	-	NULL	ENSG00000156395		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0.00	78	0	T	NM_014978		107015536	+1			no_errors	ENST00000369701	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	C
SPCS3	60559	genome.wustl.edu	37	4	177248294	177248294	+	Intron	SNP	A	A	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:177248294A>C	ENST00000503362.1	+	4	407				SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TTATCTAATTAATTTTCATTT	0.318																																																	0													22.0	21.0	22.0					4																	177248294		1795	4047	5842	SO:0001627	intron_variant	0			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.295-19A>C	4.37:g.177248294A>C			P12280|Q9H0S7	RNA	SNP	-	NULL	ENST00000503362.1	37	NULL	CCDS54823.1	4																																																																																			SPCS3	-	-	ENSG00000129128		0.318	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPCS3	HGNC	protein_coding	OTTHUMT00000362329.1	-	0.00	69	0	A	NM_021928		177248294	+1	tier1	-	no_errors	ENST00000507001	ensembl	human	putative	74_37	rna	32.08	36	17	SNP	0.997	C
SPIRE2	84501	genome.wustl.edu	37	16	89924827	89924827	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:89924827A>G	ENST00000378247.3	+	8	1227	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	SPIRE2_ENST00000393062.2_Missense_Mutation_p.D395G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	395					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCAGTCACAGATGCTGGGGGC	0.622																																																	0													66.0	72.0	70.0					16																	89924827		2198	4299	6497	SO:0001583	missense	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1184A>G	16.37:g.89924827A>G	ENSP00000367494:p.Asp395Gly		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.D395G	ENST00000378247.3	37	c.1184	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440903	0.25900	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.43294	0.95;0.95	5.55	4.25	0.50352	.	0.396597	0.29745	N	0.011307	T	0.26484	0.0647	N	0.16233	0.39	0.31016	N	0.718688	B;B;B;B	0.17268	0.003;0.021;0.005;0.004	B;B;B;B	0.16722	0.004;0.016;0.006;0.004	T	0.16129	-1.0413	10	0.34782	T	0.22	-17.1072	10.964	0.47401	0.9128:0.0:0.0872:0.0	.	262;395;347;395	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	G	395	ENSP00000367494:D395G;ENSP00000376782:D395G	ENSP00000367494:D395G	D	+	2	0	SPIRE2	88452328	0.070000	0.21116	0.020000	0.16555	0.066000	0.16364	0.552000	0.23376	2.118000	0.64928	0.533000	0.62120	GAT	SPIRE2	-	NULL	ENSG00000204991		0.622	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0.00	86	0	A	XM_047462		89924827	+1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	missense	14.13	79	13	SNP	0.107	G
SRPX	8406	genome.wustl.edu	37	X	38079995	38079996	+	Missense_Mutation	DNP	CA	CA	AG	rs201383079		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:38079995_38079996CA>AG	ENST00000378533.3	-	1	156_157	c.50_51TG>CT	c.(49-51)cTG>cCT	p.L17P	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.L17P|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_Missense_Mutation_p.L17P|SRPX_ENST00000432886.2_Missense_Mutation_p.L17P|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	17					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						gcagcagcagcagaggcggcag	0.738											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.50_51delinsAG	X.37:g.38079995_38079996delinsAG	ENSP00000367794:p.Leu17Pro	875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent|Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L17|p.L17P	ENST00000378533.3	37	c.51|c.50	CCDS14245.1	X																																																																																			SRPX	-	NULL	ENSG00000101955		0.738	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1		0.00	25	0	C|A	NM_006307		38079995|38079996	-1			no_errors	ENST00000378533	ensembl	human	known	74_37	silent|missense	15.38	22	4	SNP	0.004|0.000	A|G
STAB1	23166	genome.wustl.edu	37	3	52544055	52544055	+	Silent	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:52544055C>T	ENST00000321725.6	+	23	2593	c.2517C>T	c.(2515-2517)agC>agT	p.S839S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	839	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076, 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)		GCTGTGTTAGCCAGGAGGGTG	0.657																																																	0													63.0	67.0	65.0					3																	52544055		2203	4300	6503	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.2517C>T	3.37:g.52544055C>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.S839	ENST00000321725.6	37	c.2517	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0.00	79	0	C	NM_015136		52544055	+1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.053	T
SUV420H1	51111	genome.wustl.edu	37	11	67926519	67926519	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:67926519T>C	ENST00000304363.4	-	11	1647	c.1294A>G	c.(1294-1296)Ata>Gta	p.I432V		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	432					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATTATTTATATGAGTTAGC	0.383																																																	0													99.0	103.0	101.0					11																	67926519		2199	4294	6493	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1294A>G	11.37:g.67926519T>C	ENSP00000305899:p.Ile432Val		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.I432V	ENST00000304363.4	37	c.1294	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	T	5.383	0.255967	0.10185	.	.	ENSG00000110066	ENST00000304363	T	0.40476	1.03	5.55	-10.7	0.00240	.	0.892392	0.09900	N	0.741210	T	0.17577	0.0422	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	10	0.12430	T	0.62	0.1819	9.9107	0.41403	0.0:0.3808:0.3483:0.2709	.	432	Q4FZB7	SV421_HUMAN	V	432	ENSP00000305899:I432V	ENSP00000305899:I432V	I	-	1	0	SUV420H1	67683095	0.046000	0.20272	0.000000	0.03702	0.847000	0.48162	-0.226000	0.09139	-1.874000	0.01133	-0.438000	0.05819	ATA	SUV420H1	-	NULL	ENSG00000110066		0.383	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1		0.00	25	0	T	NM_017635		67926519	-1			no_errors	ENST00000304363	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.000	C
SYK	6850	genome.wustl.edu	37	9	93627351	93627351	+	Missense_Mutation	SNP	G	G	A	rs139520862		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:93627351G>A	ENST00000375754.4	+	6	966	c.818G>A	c.(817-819)cGt>cAt	p.R273H	SYK_ENST00000375747.1_Missense_Mutation_p.R273H|SYK_ENST00000375746.1_Missense_Mutation_p.R273H|SYK_ENST00000375751.4_Missense_Mutation_p.R273H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	273	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGGCCGTCCACAACTT	0.443			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	126.0	128.0		818,818,818,818	2.5	0.0	9	dbSNP_134	128	0,8600		0,0,4300	yes	missense,missense,missense,missense	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	273/613,273/636,273/613,273/636	93627351	1,13005	2203	4300	6503	SO:0001583	missense	0			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.818G>A	9.37:g.93627351G>A	ENSP00000364907:p.Arg273His			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R273H	ENST00000375754.4	37	c.818	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	7.902	0.734710	0.15574	2.27E-4	0.0	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.73152	-0.71;-0.72;-0.72;-0.71	4.46	2.5	0.30297	.	0.736452	0.12398	N	0.472382	T	0.50650	0.1628	L	0.29908	0.895	0.09310	N	1	B;B;D	0.58620	0.002;0.005;0.983	B;B;B	0.41299	0.002;0.001;0.353	T	0.34775	-0.9815	10	0.13470	T	0.59	.	4.6034	0.12364	0.3433:0.0:0.6567:0.0	.	273;273;273	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	H	273	ENSP00000364907:R273H;ENSP00000364904:R273H;ENSP00000364899:R273H;ENSP00000364898:R273H	ENSP00000364898:R273H	R	+	2	0	SYK	92667172	0.067000	0.21026	0.017000	0.16124	0.206000	0.24218	1.019000	0.30014	0.712000	0.32039	0.561000	0.74099	CGT	SYK	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70	ENSG00000165025		0.443	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	-	0.00	71	0	G			93627351	+1	tier1	rs139520862	no_errors	ENST00000375746	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.017	A
TBC1D4	9882	genome.wustl.edu	37	13	76055775	76055775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr13:76055775delC	ENST00000377636.3	-	1	475	c.129delG	c.(127-129)gggfs	p.G43fs	TBC1D4_ENST00000377625.2_Frame_Shift_Del_p.G43fs|TBC1D4_ENST00000431480.2_Frame_Shift_Del_p.G43fs|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	43					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCAGGCACGACCCCCCAACGT	0.726																																																	0													12.0	15.0	14.0					13																	76055775		1942	4146	6088	SO:0001589	frameshift_variant	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.129delG	13.37:g.76055775delC	ENSP00000366863:p.Gly43fs		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S44fs	ENST00000377636.3	37	c.129	CCDS41901.1	13																																																																																			TBC1D4	-	smart_PTB/PI_dom	ENSG00000136111		0.726	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1		0.00	48	0	C	NM_014832		76055775	-1	tier1		no_errors	ENST00000377636	ensembl	human	known	74_37	frame_shift_del	43.24	21	16	DEL	1.000	-
TEP1	7011	genome.wustl.edu	37	14	20844365	20844365	+	Silent	SNP	T	T	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:20844365T>C	ENST00000262715.5	-	42	6187	c.6147A>G	c.(6145-6147)gaA>gaG	p.E2049E	TEP1_ENST00000556935.1_Silent_p.E1941E|TEP1_ENST00000545983.1_Silent_p.E387E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2049					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGGAAAGTCTTCTGCCTTGT	0.597																																																	0													58.0	58.0	58.0					14																	20844365		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6147A>G	14.37:g.20844365T>C			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2049	ENST00000262715.5	37	c.6147	CCDS9548.1	14																																																																																			TEP1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000129566		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0.00	35	0	T	NM_007110		20844365	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.002	C
THSD4	79875	genome.wustl.edu	37	15	72063512	72063512	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:72063512A>G	ENST00000355327.3	+	17	3013	c.2879A>G	c.(2878-2880)gAa>gGa	p.E960G	THSD4_ENST00000261862.6_Missense_Mutation_p.E960G|THSD4_ENST00000357769.4_Missense_Mutation_p.E600G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	960	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAGAGAGAGAATCTTGTAAC	0.483																																																	0													145.0	139.0	141.0					15																	72063512		1870	4101	5971	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2879A>G	15.37:g.72063512A>G	ENSP00000347484:p.Glu960Gly		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E960G	ENST00000355327.3	37	c.2879	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612797	0.87258	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.58210	0.35;0.35;0.35	5.05	5.05	0.67936	.	.	.	.	.	T	0.73297	0.3569	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.77542	-0.2549	9	0.66056	D	0.02	.	12.7715	0.57423	1.0:0.0:0.0:0.0	.	600;960	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	960;960;600	ENSP00000347484:E960G;ENSP00000261862:E960G;ENSP00000350413:E600G	ENSP00000261862:E960G	E	+	2	0	THSD4	69850566	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	9.122000	0.94380	1.907000	0.55213	0.455000	0.32223	GAA	THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.483	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0.00	113	0	A	NM_024817		72063512	+1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	23.28	89	27	SNP	1.000	G
TNKS2	80351	genome.wustl.edu	37	10	93614825	93614825	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:93614825G>C	ENST00000371627.4	+	22	3234	c.2855G>C	c.(2854-2856)gGa>gCa	p.G952A		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	952					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGGTAGTGGAACAATTCTT	0.328																																																	0													88.0	89.0	89.0					10																	93614825		2203	4297	6500	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2855G>C	10.37:g.93614825G>C	ENSP00000360689:p.Gly952Ala		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.G952A	ENST00000371627.4	37	c.2855	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	g	26.8	4.773629	0.90108	.	.	ENSG00000107854	ENST00000371627	T	0.67171	-0.25	5.43	5.43	0.79202	.	0.000000	0.52532	U	0.000078	D	0.83473	0.5262	M	0.85197	2.74	0.58432	D	0.999991	D	0.65815	0.995	D	0.64776	0.929	D	0.85734	0.1333	10	0.66056	D	0.02	.	19.2349	0.93855	0.0:0.0:1.0:0.0	.	952	Q9H2K2	TNKS2_HUMAN	A	952	ENSP00000360689:G952A	ENSP00000360689:G952A	G	+	2	0	TNKS2	93604805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.548000	0.85928	0.586000	0.80456	GGA	TNKS2	-	NULL	ENSG00000107854		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0.00	58	0	G	NM_025235		93614825	+1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	C
TNXB	7148	genome.wustl.edu	37	6	32024678	32024678	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:32024678C>A	ENST00000375244.3	-	23	8029	c.7828G>T	c.(7828-7830)Gat>Tat	p.D2610Y	TNXB_ENST00000375247.2_Missense_Mutation_p.D2610Y			P22105	TENX_HUMAN	tenascin XB	2670	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCGGCTTCATCCTCTGGAGTT	0.582																																																	0													79.0	97.0	90.0					6																	32024678		1392	2602	3994	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7828G>T	6.37:g.32024678C>A	ENSP00000364393:p.Asp2610Tyr		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D2610Y	ENST00000375244.3	37	c.7828		6	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282688	0.23392	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.52;0.44	4.09	0.833	0.18875	.	2.044790	0.02752	N	0.117612	T	0.30541	0.0768	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.54312	0.748	T	0.14504	-1.0470	10	0.52906	T	0.07	.	3.9259	0.09263	0.1865:0.5749:0.0:0.2386	.	2610	P22105-3	.	Y	2610	ENSP00000364393:D2610Y;ENSP00000364396:D2610Y	ENSP00000364393:D2610Y	D	-	1	0	TNXB	32132656	.	.	0.010000	0.14722	0.115000	0.19883	.	.	-0.202000	0.10268	-0.683000	0.03753	GAT	TNXB	-	NULL	ENSG00000168477		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0.00	96	0	C	NM_019105		32024678	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	17.78	73	16	SNP	0.032	A
TOPBP1	11073	genome.wustl.edu	37	3	133320154	133320154	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:133320154T>A	ENST00000260810.5	-	28	4640	c.4509A>T	c.(4507-4509)ttA>ttT	p.L1503F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1503					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTTGTGATAATCCAGTCC	0.318								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													52.0	47.0	48.0					3																	133320154		1792	4060	5852	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4509A>T	3.37:g.133320154T>A	ENSP00000260810:p.Leu1503Phe		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.L1503F	ENST00000260810.5	37	c.4509	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	T	6.687	0.495283	0.12762	.	.	ENSG00000163781	ENST00000260810	T	0.12774	2.65	5.6	3.24	0.37175	.	0.411149	0.26931	N	0.021765	T	0.10508	0.0257	L	0.51422	1.61	0.27615	N	0.948531	B	0.09022	0.002	B	0.09377	0.004	T	0.27872	-1.0061	10	0.36615	T	0.2	.	1.8664	0.03199	0.1282:0.1463:0.1493:0.5761	.	1503	Q92547	TOPB1_HUMAN	F	1503	ENSP00000260810:L1503F	ENSP00000260810:L1503F	L	-	3	2	TOPBP1	134802844	0.900000	0.30661	0.534000	0.28014	0.107000	0.19398	1.033000	0.30191	0.424000	0.26061	0.533000	0.62120	TTA	TOPBP1	-	NULL	ENSG00000163781		0.318	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0.00	97	0	T	NM_007027		133320154	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	22.68	75	22	SNP	0.804	A
TP53	7157	genome.wustl.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	TTCTTTGGCTGGGGAGAGGAG	0.473		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"""	46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(1)											129.0	119.0	122.0					17																	7576897		2203	4300	6503	SO:0001587	stop_gained	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.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*		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	Nonsense_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.Q317*	ENST00000269305.4	37	c.949	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG	TP53	-	NULL	ENSG00000141510		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	103	0	G	NM_000546		7576897	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	44.57	51	41	SNP	0.012	A
TRIM71	131405	genome.wustl.edu	37	3	32859629	32859629	+	Silent	SNP	C	C	T	rs372149437		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:32859629C>T	ENST00000383763.5	+	1	120	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	19					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAGATGTGCGGCTCGCCGG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		10706	0.0		0.0	False		,,,				2504	0.001																0								C		1,3927		0,1,1963	37.0	39.0	38.0		57	4.4	1.0	3		38	0,8276		0,0,4138	no	coding-synonymous	TRIM71	NM_001039111.1		0,1,6101	TT,TC,CC		0.0,0.0255,0.0082		19/869	32859629	1,12203	1964	4138	6102	SO:0001819	synonymous_variant	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.57C>T	3.37:g.32859629C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.C19	ENST00000383763.5	37	c.57	CCDS43060.1	3																																																																																			TRIM71	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000206557		0.692	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3		0.00	32	0	C	NM_001039111		32859629	+1			no_errors	ENST00000383763	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T
TSTD2	158427	genome.wustl.edu	37	9	100388272	100388272	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:100388272G>A	ENST00000341170.4	-	3	555	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	58										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACAAAAAGGGCAAAGGCCTG	0.358																																																	0													59.0	57.0	58.0					9																	100388272		2202	4300	6502	SO:0001583	missense	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.173C>T	9.37:g.100388272G>A	ENSP00000342499:p.Ala58Val		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A58V	ENST00000341170.4	37	c.173	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827521	0.71143	.	.	ENSG00000136925	ENST00000341170	T	0.38722	1.12	4.67	4.67	0.58626	.	0.110120	0.64402	D	0.000010	T	0.49321	0.1550	L	0.59436	1.845	0.80722	D	1	P	0.47106	0.89	P	0.47346	0.544	T	0.56306	-0.8001	10	0.87932	D	0	-7.7533	17.2082	0.86923	0.0:0.0:1.0:0.0	.	58	Q5T7W7	TSTD2_HUMAN	V	58	ENSP00000342499:A58V	ENSP00000342499:A58V	A	-	2	0	TSTD2	99428093	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.207000	0.72159	2.531000	0.85337	0.462000	0.41574	GCC	TSTD2	-	NULL	ENSG00000136925		0.358	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4		0.00	44	0	G	NM_139246		100388272	-1			no_errors	ENST00000341170	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A
ULK1	8408	genome.wustl.edu	37	12	132405711	132405712	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:132405711_132405712GC>TT	ENST00000321867.4	+	27	3379_3380	c.3028_3029GC>TT	c.(3028-3030)GCc>TTc	p.A1010F	ULK1_ENST00000540647.1_Missense_Mutation_p.A255F	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1010					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACCACAAGGCCCTGCTGCTC	0.683																																																	0																																										SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	Exception_encountered	12.37:g.132405711_132405712delinsTT	ENSP00000324560:p.Ala1010Phe		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A1010S|p.A1010V	ENST00000321867.4	37	c.3028|c.3029	CCDS9274.1	12																																																																																			ULK1	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.683	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	-	0.00	18|17	0	G|C			132405711|132405712	+1	tier1	-	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	23.81|22.73	16|17	5	SNP	1.000|0.999	T
VARS2	57176	genome.wustl.edu	37	6	30892146	30892146	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:30892146G>A	ENST00000321897.5	+	25	3114	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	VARS2_ENST00000541562.1_Missense_Mutation_p.V858M|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.V688M|VARS2_ENST00000416670.2_Missense_Mutation_p.V828M			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	828					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.V828M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGTGAAGCCCGTGCTGTGGCA	0.697																																																	1	Substitution - Missense(1)	ovary(1)											29.0	37.0	34.0					6																	30892146		1503	2691	4194	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2482G>A	6.37:g.30892146G>A	ENSP00000316092:p.Val828Met		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.V858M	ENST00000321897.5	37	c.2572	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147198	0.37923	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.47	2.69	0.31865	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.879091	0.10016	N	0.726569	T	0.08802	0.0218	L	0.51914	1.62	0.09310	N	1	D;P;P;P	0.53462	0.96;0.842;0.81;0.733	P;B;B;B	0.51833	0.681;0.443;0.316;0.166	T	0.21861	-1.0233	10	0.52906	T	0.07	-0.55	6.0083	0.19559	0.1667:0.3296:0.5037:0.0	.	266;826;858;828	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	M	828;828;688;858	ENSP00000316092:V828M;ENSP00000394802:V828M;ENSP00000438200:V688M;ENSP00000441000:V858M	ENSP00000316092:V828M	V	+	1	0	VARS2	31000125	0.957000	0.32711	0.001000	0.08648	0.001000	0.01503	1.662000	0.37418	0.261000	0.21753	-0.886000	0.02939	GTG	VARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase	ENSG00000137411		0.697	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2		0.00	40	0	G	NM_020442		30892146	+1			no_errors	ENST00000541562	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.074	A
VPS4A	27183	genome.wustl.edu	37	16	69353364	69353364	+	Missense_Mutation	SNP	G	G	A	rs573192094		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:69353364G>A	ENST00000254950.11	+	6	694	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.V204M	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GGCCAAAGCCGTGGCAACAGA	0.582																																																	0													55.0	60.0	59.0					16																	69353364		2019	4178	6197	SO:0001583	missense	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.538G>A	16.37:g.69353364G>A	ENSP00000254950:p.Val180Met			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.V180M	ENST00000254950.11	37	c.538	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.208627	0.95069	.	.	ENSG00000132612	ENST00000254950	D	0.95307	-3.67	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97286	0.9921	10	0.87932	D	0	-29.0773	20.2159	0.98296	0.0:0.0:1.0:0.0	.	180	Q9UN37	VPS4A_HUMAN	M	180	ENSP00000254950:V180M	ENSP00000254950:V180M	V	+	1	0	VPS4A	67910865	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	9.858000	0.99539	2.882000	0.98803	0.655000	0.94253	GTG	VPS4A	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000132612		0.582	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0.00	61	0	G	NM_013245		69353364	+1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A
ZC3H12A	80149	genome.wustl.edu	37	1	37948688	37948688	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:37948688G>C	ENST00000373087.6	+	6	1392	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAGACGCTGGACTCACTCCC	0.642																																																	0													18.0	21.0	20.0					1																	37948688		2203	4299	6502	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1276G>C	1.37:g.37948688G>C	ENSP00000362179:p.Asp426His			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D426H	ENST00000373087.6	37	c.1276	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891974	0.33442	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.21543	2.0	5.52	3.58	0.41010	.	0.345039	0.31177	N	0.008104	T	0.40423	0.1116	M	0.66939	2.045	0.09310	N	1	D;P	0.89917	1.0;0.621	D;B	0.79108	0.992;0.117	T	0.09997	-1.0649	10	0.49607	T	0.09	-33.8618	9.9758	0.41783	0.0735:0.1365:0.79:0.0	.	221;426	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	H	426	ENSP00000362179:D426H	ENSP00000362174:D426H	D	+	1	0	ZC3H12A	37721275	1.000000	0.71417	0.058000	0.19502	0.361000	0.29550	4.961000	0.63681	1.318000	0.45170	0.561000	0.74099	GAC	ZC3H12A	-	NULL	ENSG00000163874		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	-	0.00	180	0	G	NM_025079		37948688	+1	tier1	-	no_errors	ENST00000373087	ensembl	human	known	74_37	missense	6.94	134	10	SNP	0.010	C
WDR47	22911	genome.wustl.edu	37	1	109566072	109566072	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109566072G>T	ENST00000369962.3	-	2	285	c.63C>A	c.(61-63)ttC>ttA	p.F21L	WDR47_ENST00000400794.3_Missense_Mutation_p.F21L|WDR47_ENST00000369965.4_Missense_Mutation_p.F21L|WDR47_ENST00000361054.3_Missense_Mutation_p.F21L|WDR47_ENST00000357672.3_Missense_Mutation_p.F21L			O94967	WDR47_HUMAN	WD repeat domain 47	21	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTGAATTCAGGAAGTCCAAAA	0.368																																																	0													153.0	155.0	155.0					1																	109566072		2203	4296	6499	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.63C>A	1.37:g.109566072G>T	ENSP00000358979:p.Phe21Leu		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F21L	ENST00000369962.3	37	c.63	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634734	0.67130	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000528747	T;T;T;T;T	0.68025	-0.3;-0.25;-0.23;-0.3;-0.23	5.21	2.98	0.34508	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.73598	2.24	0.52099	D	0.999949	D;D;D	0.63880	0.993;0.993;0.974	D;D;D	0.68192	0.956;0.956;0.953	T	0.76924	-0.2779	10	0.87932	D	0	-0.0177	11.2777	0.49176	0.2287:0.0:0.7713:0.0	.	21;21;21	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	L	21	ENSP00000383599:F21L;ENSP00000358979:F21L;ENSP00000354339:F21L;ENSP00000358982:F21L;ENSP00000350301:F21L	ENSP00000350301:F21L	F	-	3	2	WDR47	109367595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.950000	0.29122	1.200000	0.43188	0.585000	0.79938	TTC	WDR47	-	smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000085433		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	-	0.00	51	0	G	NM_014969		109566072	-1	tier1	-	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.998	T
ZNF214	7761	genome.wustl.edu	37	11	7022088	7022088	+	Missense_Mutation	SNP	C	C	T	rs201911443		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:7022088C>T	ENST00000278314.4	-	3	1141	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G276R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G276R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCATCACATCCGTACAGCTTC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19775	0.0		0.0	False		,,,				2504	0.001				Ovarian(22;251 657 736 21522 46864)												1	Substitution - Missense(1)	lung(1)											131.0	126.0	128.0					11																	7022088		2200	4295	6495	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.826G>A	11.37:g.7022088C>T	ENSP00000278314:p.Gly276Arg		B2R8Q1	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.G276R	ENST00000278314.4	37	c.826	CCDS31418.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.040	-1.288939	0.01387	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.14391	2.51;2.51	3.75	0.347	0.16022	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160165	0.29799	N	0.011177	T	0.04048	0.0113	N	0.02674	-0.535	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.33803	-0.9854	10	0.37606	T	0.19	.	3.7823	0.08686	0.0:0.4272:0.1852:0.3876	.	276	Q9UL59	ZN214_HUMAN	R	276	ENSP00000278314:G276R;ENSP00000445373:G276R	ENSP00000278314:G276R	G	-	1	0	ZNF214	6978664	0.000000	0.05858	0.110000	0.21437	0.767000	0.43475	-3.262000	0.00535	0.083000	0.17047	0.650000	0.86243	GGA	ZNF214	-	pfscan_Znf_C2H2	ENSG00000149050		0.438	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1		0.00	26	0	C			7022088	-1			no_errors	ENST00000278314	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.001	T
ZNF217	7764	genome.wustl.edu	37	20	52193541	52193541	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:52193541C>T	ENST00000371471.2	-	4	2187	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.G588S			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACAGCGCTGCCCAGAACATTC	0.428																																																	0													121.0	114.0	116.0					20																	52193541		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1762G>A	20.37:g.52193541C>T	ENSP00000360526:p.Gly588Ser		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G588S	ENST00000371471.2	37	c.1762	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002787	0.74932	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08807	3.05;3.05	5.17	4.22	0.49857	.	0.310580	0.32884	N	0.005522	T	0.18882	0.0453	M	0.67953	2.075	0.38350	D	0.944316	D	0.69078	0.997	D	0.64042	0.921	T	0.16158	-1.0412	10	0.17832	T	0.49	-23.9769	7.846	0.29426	0.1626:0.7552:0.0:0.0822	.	588	O75362	ZN217_HUMAN	S	588	ENSP00000360526:G588S;ENSP00000304308:G588S	ENSP00000304308:G588S	G	-	1	0	ZNF217	51626948	0.991000	0.36638	0.994000	0.49952	0.857000	0.48899	1.687000	0.37680	1.276000	0.44395	0.555000	0.69702	GGC	ZNF217	-	NULL	ENSG00000171940		0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	-	0.00	71	0	C	NM_006526		52193541	-1	tier1	-	no_errors	ENST00000302342	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.998	T
ZNF664	144348	genome.wustl.edu	37	12	124496969	124496969	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:124496969G>A	ENST00000539644.1	+	6	2108	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ZNF664_ENST00000538932.2_Missense_Mutation_p.G93D|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.G93D|ZNF664_ENST00000392404.3_Missense_Mutation_p.G93D			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	93					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TACGAGTGTGGCAAAGCCTTC	0.388																																																	0													75.0	85.0	81.0					12																	124496969		2203	4300	6503	SO:0001583	missense	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.278G>A	12.37:g.124496969G>A	ENSP00000441405:p.Gly93Asp		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G93D	ENST00000539644.1	37	c.278	CCDS9257.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722520	0.89298	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.01430	4.9;4.9;4.9;4.9	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000914	T	0.03695	0.0105	L	0.31845	0.965	0.49213	D	0.999768	D	0.59767	0.986	P	0.59643	0.861	T	0.56757	-0.7926	10	0.66056	D	0.02	-31.5921	14.7087	0.69211	0.0:0.0:1.0:0.0	.	93	Q8N3J9	ZN664_HUMAN	D	93;93;93;93;31	ENSP00000441405:G93D;ENSP00000376205:G93D;ENSP00000440645:G93D;ENSP00000337320:G93D	ENSP00000337320:G93D	G	+	2	0	ZNF664	123062922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.592000	0.87571	0.655000	0.94253	GGC	ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179195		0.388	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1		0.00	46	0	G	NM_152437		124496969	+1			no_errors	ENST00000337815	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
ZNF804B	219578	genome.wustl.edu	37	7	88963404	88963404	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:88963404C>A	ENST00000333190.4	+	4	1717	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	370							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)			CTTCAGCCCACCAAACATTTA	0.403										HNSCC(36;0.09)																																							0													43.0	49.0	47.0					7																	88963404		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.1108C>A	7.37:g.88963404C>A	ENSP00000329638:p.Pro370Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.P370T	ENST00000333190.4	37	c.1108	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	4.469	0.086899	0.08583	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.19	2.33	0.28932	.	0.629618	0.14931	N	0.290077	T	0.03651	0.0104	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.47289	-0.9129	10	0.13108	T	0.6	0.0968	2.1543	0.03808	0.242:0.3826:0.236:0.1393	.	370	A4D1E1	Z804B_HUMAN	T	370	ENSP00000329638:P370T	ENSP00000329638:P370T	P	+	1	0	ZNF804B	88801340	0.000000	0.05858	0.794000	0.32065	0.994000	0.84299	-0.014000	0.12656	0.326000	0.23384	0.655000	0.94253	CCA	ZNF804B	-	NULL	ENSG00000182348		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	41	0	C	NM_181646		88963404	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.002	A
ZNF90	7643	genome.wustl.edu	37	19	20190747	20190747	+	Intron	DEL	T	T	-	rs201406331|rs113327735		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:20190747delT	ENST00000418063.2	+	1	115				ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	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						GTAtttcctcttttttttttt	0.488																																																	0																																										SO:0001627	intron_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	ENST00000418063.2:c.3+1803T>-	19.37:g.20190747delT			B9EH87	RNA	DEL	-	NULL	ENST00000418063.2	37	NULL	CCDS46028.1	19																																																																																			ZNF90	-	-	ENSG00000213988		0.488	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1		0.00	18	0	T	NM_007138		20190747	+1	tier1		no_errors	ENST00000492328	ensembl	human	known	74_37	rna	16.00	21	4	DEL	1.000	-
