#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA12	26154	genome.wustl.edu	37	2	215854146	215854146	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:215854146C>T	ENST00000272895.7	-	26	3955	c.3736G>A	c.(3736-3738)Gac>Aac	p.D1246N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D928N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1246					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)		GAGGTGGTGTCATCCTGAACC	0.423																																					Ovarian(66;664 1488 5121 34295)												0													113.0	111.0	112.0					2																	215854146		2203	4300	6503	SO:0001583	missense	26154			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.3736G>A	2.37:g.215854146C>T	ENSP00000272895:p.Asp1246Asn		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1246N	ENST00000272895.7	37	c.3736	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.061423	0.93846	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	D	0.89694	0.6789	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.974	D	0.90519	0.4487	10	0.62326	D	0.03	.	19.3349	0.94312	0.0:1.0:0.0:0.0	.	1246;928	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1246;928	ENSP00000272895:D1246N;ENSP00000374312:D928N	ENSP00000272895:D1246N	D	-	1	0	ABCA12	215562391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.656000	0.90262	0.591000	0.81541	GAC	ABCA12	-	NULL		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215854146	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	1.000	T
AGRN	375790	genome.wustl.edu	37	1	984694	984694	+	Silent	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:984694G>T	ENST00000379370.2	+	25	4427	c.4377G>T	c.(4375-4377)ctG>ctT	p.L1459L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCTGGAGCTGTCCCGGCACT	0.697																																																	0													25.0	31.0	29.0					1																	984694		2194	4296	6490	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4377G>T	1.37:g.984694G>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.L1459	ENST00000379370.2	37	c.4377	CCDS30551.1	1																																																																																			AGRN	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	G	NM_198576		984694	+1	no_errors	ENST00000379370	ensembl	human	known	70_37	silent	SNP	0.999	T
AHNAK2	113146	genome.wustl.edu	37	14	105418694	105418694	+	Missense_Mutation	SNP	G	G	C	rs140208061	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:105418694G>C	ENST00000333244.5	-	7	3213	c.3094C>G	c.(3094-3096)Ctg>Gtg	p.L1032V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1032						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCAGGTCGGCCTCC	0.582													.|||	9	0.00179712	0.0023	0.0029	5008	,	,		19979	0.002		0.0	False		,,,				2504	0.002																0								C	VAL/LEU	1,3955		0,1,1977	138.0	151.0	147.0		3094	0.6	0.0	14	dbSNP_134	147	1,8315		0,1,4157	no	missense	AHNAK2	NM_138420.2	32	0,2,6134	CC,CG,GG		0.012,0.0253,0.0163	benign	1032/5796	105418694	2,12270	1978	4158	6136	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3094C>G	14.37:g.105418694G>C	ENSP00000353114:p.Leu1032Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1032V	ENST00000333244.5	37	c.3094	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.119769	0.00346	2.53E-4	1.2E-4	ENSG00000185567	ENST00000333244	T	0.00581	6.42	3.5	0.558	0.17266	.	.	.	.	.	T	0.00144	0.0004	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40175	-0.9577	9	0.02654	T	1	.	5.329	0.15922	0.0:0.4351:0.2925:0.2724	.	1032	Q8IVF2	AHNK2_HUMAN	V	1032	ENSP00000353114:L1032V	ENSP00000353114:L1032V	L	-	1	2	AHNAK2	104489739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.097000	0.00606	-0.661000	0.05345	-2.269000	0.00276	CTG	AHNAK2	-	NULL		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105418694	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	C
ALPL	249	genome.wustl.edu	37	1	21887187	21887187	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:21887187C>G	ENST00000374840.3	+	3	380	c.130C>G	c.(130-132)Cag>Gag	p.Q44E	ALPL_ENST00000374832.1_Missense_Mutation_p.Q44E|ALPL_ENST00000539907.1_Missense_Mutation_p.F5L|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.Q44E|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	44					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CCTGGAGCTTCAGAAGCTCAA	0.542																																																	0			GRCh37	HM971627	ALPL	M							83.0	81.0	82.0					1																	21887187		2203	4300	6503	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.130C>G	1.37:g.21887187C>G	ENSP00000363973:p.Gln44Glu		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.Q44E	ENST00000374840.3	37	c.130	CCDS217.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853440|2.853440	0.51270|0.51270	.|.	.|.	ENSG00000162551|ENSG00000162551	ENST00000539907|ENST00000374840;ENST00000374832;ENST00000425315	D|D;D;D	0.95885|0.95885	-3.84|-3.84;-3.84;-3.84	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	.|0.053667	.|0.85682	.|D	.|0.000000	D|D	0.92916|0.92916	0.7746|0.7746	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|D	0.17038|0.53151	0.02;0.009|0.958	B;B|B	0.19148|0.39706	0.024;0.01|0.307	D|D	0.92103|0.92103	0.5690|0.5690	8|9	0.87932|0.31617	D|T	0|0.26	-12.1607|-12.1607	18.4213|18.4213	0.90591|0.90591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	5;5|44	B7Z387;B7Z1D1|P05186	.;.|PPBT_HUMAN	L|E	5|44	ENSP00000437674:F5L|ENSP00000363973:Q44E;ENSP00000363965:Q44E;ENSP00000394765:Q44E	ENSP00000437674:F5L|ENSP00000363965:Q44E	F|Q	+|+	3|1	2|0	ALPL|ALPL	21759774|21759774	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.896000|0.896000	0.52359|0.52359	4.097000|4.097000	0.57741|0.57741	2.698000|2.698000	0.92095|0.92095	0.561000|0.561000	0.74099|0.74099	TTC|CAG	ALPL	-	superfamily_Alkaline_phosphatase_core		0.542	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	C	NM_000478		21887187	+1	no_errors	ENST00000374832	ensembl	human	known	70_37	missense	SNP	1.000	G
AP3B1	8546	genome.wustl.edu	37	5	77452106	77452106	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:77452106C>T	ENST00000255194.6	-	14	1624	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	AP3B1_ENST00000519295.1_Missense_Mutation_p.M434I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	483					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGAGTTTGGCCATATGTTTAA	0.318									Hermansky-Pudlak syndrome																																								0													169.0	162.0	164.0					5																	77452106		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1449G>A	5.37:g.77452106C>T	ENSP00000255194:p.Met483Ile		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.M483I	ENST00000255194.6	37	c.1449	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011792	0.75046	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.28255	1.62;1.62	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.42487	1.325	0.80722	D	1	B	0.32968	0.392	B	0.37989	0.262	T	0.10917	-1.0609	10	0.51188	T	0.08	-23.1334	19.4894	0.95044	0.0:1.0:0.0:0.0	.	483	O00203	AP3B1_HUMAN	I	483;434;483;387	ENSP00000255194:M483I;ENSP00000430597:M434I	ENSP00000255194:M483I	M	-	3	0	AP3B1	77487862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.741000	0.84997	2.676000	0.91093	0.563000	0.77884	ATG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.318	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77452106	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP32	9743	genome.wustl.edu	37	11	128858006	128858006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:128858006G>A	ENST00000310343.9	-	12	1167	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.Q316*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q41*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q41*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGCAGCTTTGAAGAACCTGC	0.383																																																	0													71.0	67.0	69.0					11																	128858006		2201	4297	6498	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1168C>T	11.37:g.128858006G>A	ENSP00000310561:p.Gln390*		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q390*	ENST00000310343.9	37	c.1168	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.514498	0.96402	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	.	.	.	5.97	5.97	0.96955	.	0.250931	0.39985	N	0.001204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1506	0.59488	0.0:0.0:0.7403:0.2596	.	.	.	.	X	390;41;316;324;41;100	.	ENSP00000310561:Q390X	Q	-	1	0	ARHGAP32	128363216	1.000000	0.71417	0.989000	0.46669	0.813000	0.45954	4.528000	0.60580	2.838000	0.97847	0.561000	0.74099	CAA	ARHGAP32	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.383	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128858006	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARMCX3	51566	genome.wustl.edu	37	X	100878176	100878176	+	5'UTR	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:100878176G>A	ENST00000341189.4	+	0	390				ARMCX3_ENST00000477980.2_3'UTR|ARMCX3_ENST00000471229.2_5'UTR|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_5'Flank	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3						cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GTTCCCGTCTGAGTACCAGCT	0.597																																																	0																																										SO:0001623	5_prime_UTR_variant	100128574			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.-477G>A	X.37:g.100878176G>A			Q53HC6|Q7LCF5|Q9NPE4	RNA	SNP	-	NULL	ENST00000341189.4	37	NULL	CCDS14489.1	X																																																																																			ARMCX3-AS1	-	-		0.597	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3-AS1	HGNC	protein_coding	OTTHUMT00000057568.2	G	NM_016607		100878176	-1	no_errors	ENST00000454228	ensembl	human	known	70_37	rna	SNP	1.000	A
ATP1B1	481	genome.wustl.edu	37	1	169100675	169100675	+	Missense_Mutation	SNP	A	A	G	rs369488918		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:169100675A>G	ENST00000367816.1	+	7	1323	c.794A>G	c.(793-795)aAt>aGt	p.N265S	ATP1B1_ENST00000499679.3_Missense_Mutation_p.N209S|ATP1B1_ENST00000367815.4_Missense_Mutation_p.N265S|ATP1B1_ENST00000367813.3_Missense_Mutation_p.N257S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	265	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CAGTTCACCAATCTTACCATG	0.488													A|||	1	0.000199681	0.0	0.0	5008	,	,		19658	0.0		0.0	False		,,,				2504	0.001																0								A	SER/ASN	0,4406		0,0,2203	107.0	102.0	104.0		794	5.5	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1B1	NM_001677.3	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	265/304	169100675	1,13005	2203	4300	6503	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.794A>G	1.37:g.169100675A>G	ENSP00000356790:p.Asn265Ser		Q5TGZ3	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.N265S	ENST00000367816.1	37	c.794	CCDS1276.1	1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694545	0.68386	0.0	1.16E-4	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	L	0.61218	1.895	0.47862	D	0.999530	D	0.89917	1.0	D	0.87578	0.998	T	0.22626	-1.0211	9	0.24483	T	0.36	-8.4305	15.5262	0.75910	1.0:0.0:0.0:0.0	.	265	P05026	AT1B1_HUMAN	S	265;265;209;257	ENSP00000356790:N265S;ENSP00000356789:N265S;ENSP00000423450:N209S;ENSP00000356787:N257S	ENSP00000356787:N257S	N	+	2	0	ATP1B1	167367299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.832000	0.92079	2.076000	0.62316	0.528000	0.53228	AAT	ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.488	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	A			169100675	+1	no_errors	ENST00000367815	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP7B	540	genome.wustl.edu	37	13	52518268	52518268	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:52518268C>T	ENST00000242839.4	-	14	3376	c.3220G>A	c.(3220-3222)Gca>Aca	p.A1074T	ATP7B_ENST00000448424.2_Missense_Mutation_p.A996T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A963T|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.A867T|ATP7B_ENST00000400370.3_Missense_Mutation_p.A644T|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.A1009T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1074					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTGGTGACTGCCACGCCCAAG	0.612									Wilson disease																																								0													41.0	44.0	43.0					13																	52518268		2056	4191	6247	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3220G>A	13.37:g.52518268C>T	ENSP00000242839:p.Ala1074Thr		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.A1074T	ENST00000242839.4	37	c.3220	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616959	0.87359	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.43	5.43	0.79202	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.87827	2.91	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.99;0.999;0.999;0.999;0.516;0.999;1.0	D;D;D;D;P;D;D	0.97110	0.987;0.998;0.996;0.996;0.662;0.996;1.0	D	0.99470	1.0945	10	0.66056	D	0.02	-16.1767	19.2349	0.93855	0.0:1.0:0.0:0.0	.	996;1026;1009;644;963;867;1074	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	T	1074;963;867;996;644;1009	ENSP00000242839:A1074T;ENSP00000383217:A963T;ENSP00000342559:A867T;ENSP00000416738:A996T;ENSP00000383221:A644T;ENSP00000393343:A1009T	ENSP00000242839:A1074T	A	-	1	0	ATP7B	51416269	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	6.037000	0.70956	2.571000	0.86741	0.561000	0.74099	GCA	ATP7B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal		0.612	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52518268	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76949326	76949326	+	Silent	SNP	G	G	A	rs398123424		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:76949326G>A	ENST00000373344.5	-	6	685	c.471C>T	c.(469-471)ctC>ctT	p.L157L	ATRX_ENST00000395603.3_Intron|ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CGCGTTTTTTGAGATTTTCAG	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											151.0	132.0	138.0					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>T	X.37:g.76949326G>A			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L157	ENST00000373344.5	37	c.471	CCDS14434.1	X																																																																																			ATRX	-	NULL		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76949326	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	silent	SNP	1.000	A
BACE2	25825	genome.wustl.edu	37	21	42598208	42598208	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr21:42598208G>T	ENST00000330333.6	+	2	791	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	BACE2_ENST00000328735.6_Missense_Mutation_p.D110Y|BACE2_ENST00000347667.5_Missense_Mutation_p.D110Y	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	110					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GATTCTCGTTGACACTGGAAG	0.403																																																	0													93.0	92.0	92.0					21																	42598208		2203	4300	6503	SO:0001583	missense	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.328G>T	21.37:g.42598208G>T	ENSP00000332979:p.Asp110Tyr		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.D110Y	ENST00000330333.6	37	c.328	CCDS13668.1	21	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258527	0.59321	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	D;D;D	0.82619	-1.63;-1.63;-1.63	4.74	4.74	0.60224	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95460	0.8542	10	0.87932	D	0	.	14.4389	0.67301	0.0:0.0:1.0:0.0	.	110;110;110	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	Y	110;110;110;15	ENSP00000332979:D110Y;ENSP00000327528:D110Y;ENSP00000333854:D110Y	ENSP00000333854:D110Y	D	+	1	0	BACE2	41520078	1.000000	0.71417	0.909000	0.35828	0.753000	0.42808	5.460000	0.66691	2.181000	0.69327	0.462000	0.41574	GAC	BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1		0.403	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	G			42598208	+1	no_errors	ENST00000330333	ensembl	human	known	70_37	missense	SNP	0.986	T
BCAR1	9564	genome.wustl.edu	37	16	75301816	75301816	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:75301816G>A	ENST00000393422.2	-	1	135	c.63C>T	c.(61-63)ctC>ctT	p.L21L	BCAR1_ENST00000418647.3_5'Flank|BCAR1_ENST00000420641.3_5'Flank|BCAR1_ENST00000538440.2_5'Flank|BCAR1_ENST00000546196.1_5'Flank|BCAR1_ENST00000535626.2_5'Flank	NM_001170715.1	NP_001164186.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	0	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACTTACTCTGAGGCAGGGAT	0.622																																																	0													27.0	31.0	30.0					16																	75301816		1563	3580	5143	SO:0001819	synonymous_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000393422.2:c.63C>T	16.37:g.75301816G>A			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L21	ENST00000393422.2	37	c.63	CCDS54043.1	16																																																																																			BCAR1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.622	BCAR1-001	KNOWN	basic|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269016.2	G	NM_014567		75301816	-1	no_errors	ENST00000393422	ensembl	human	known	70_37	silent	SNP	0.000	A
C1GALT1C1	29071	genome.wustl.edu	37	X	119760183	119760183	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:119760183C>A	ENST00000304661.5	-	2	1077	c.839G>T	c.(838-840)gGa>gTa	p.G280V	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.G280V	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	280					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TGGAGTCAGTCCATTAAAAGT	0.403																																																	0													169.0	144.0	152.0					X																	119760183		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.839G>T	X.37:g.119760183C>A	ENSP00000304364:p.Gly280Val		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.G280V	ENST00000304661.5	37	c.839	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425249	0.43020	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.42131	0.98;0.98	5.46	4.59	0.56863	.	0.052914	0.85682	D	0.000000	T	0.44350	0.1289	M	0.67953	2.075	0.80722	D	1	P	0.36222	0.544	B	0.39339	0.297	T	0.39461	-0.9613	9	.	.	.	-14.3497	13.1699	0.59591	0.0:0.9164:0.0:0.0836	.	280	Q96EU7	C1GLC_HUMAN	V	280	ENSP00000304364:G280V;ENSP00000360363:G280V	.	G	-	2	0	C1GALT1C1	119644211	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.668000	0.54554	2.406000	0.81754	0.544000	0.68410	GGA	C1GALT1C1	-	NULL		0.403	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	C	NM_152692		119760183	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	A
C20orf196	149840	genome.wustl.edu	37	20	5753576	5753576	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:5753576C>T	ENST00000303142.6	+	2	152	c.65C>T	c.(64-66)tCa>tTa	p.S22L	C20orf196_ENST00000378979.4_Missense_Mutation_p.S22L	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	22										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GACCTGCCATCAGCGTGTGAC	0.493																																																	0													130.0	122.0	125.0					20																	5753576		2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.65C>T	20.37:g.5753576C>T	ENSP00000305875:p.Ser22Leu		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.S22L	ENST00000303142.6	37	c.65	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081457	0.20309	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.81	3.84	0.44239	.	0.692660	0.12649	N	0.450597	T	0.47414	0.1444	L	0.45581	1.43	0.09310	N	1	B	0.21225	0.053	B	0.27262	0.078	T	0.44832	-0.9302	10	0.54805	T	0.06	-5.9757	9.6019	0.39609	0.0:0.8323:0.0:0.1677	.	22	Q8IYI0	CT196_HUMAN	L	22;22;22;22;69;69	ENSP00000368263:S22L;ENSP00000305875:S22L;ENSP00000399331:S22L;ENSP00000410534:S69L	ENSP00000305875:S22L	S	+	2	0	C20orf196	5701576	0.002000	0.14202	0.005000	0.12908	0.074000	0.17049	1.516000	0.35856	1.429000	0.47314	0.650000	0.86243	TCA	C20orf196	-	NULL		0.493	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2	C	NM_152504		5753576	+1	no_errors	ENST00000303142	ensembl	human	known	70_37	missense	SNP	0.002	T
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	A
CACNG1	786	genome.wustl.edu	37	17	65050167	65050167	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:65050167C>T	ENST00000226021.3	+	2	356	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	95					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGGAGATCTTCGAATTCACCA	0.542																																																	0													104.0	103.0	103.0					17																	65050167		2203	4300	6503	SO:0001819	synonymous_variant	786			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.285C>T	17.37:g.65050167C>T			B2R9N3|Q14D59	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu	p.F95	ENST00000226021.3	37	c.285	CCDS11668.1	17																																																																																			CACNG1	-	pfam_PMP22/EMP/MP20/Claudin		0.542	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG1	HGNC	protein_coding	OTTHUMT00000447039.1	C			65050167	+1	no_errors	ENST00000226021	ensembl	human	known	70_37	silent	SNP	0.986	T
CALD1	800	genome.wustl.edu	37	7	134618683	134618683	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:134618683G>A	ENST00000361675.2	+	5	1392	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	388					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGCAGAAACGTAACAAGCAG	0.448																																																	0													131.0	141.0	138.0					7																	134618683		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1163G>A	7.37:g.134618683G>A	ENSP00000354826:p.Arg388His		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.R388H	ENST00000361675.2	37	c.1163	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480207	0.26598	.	.	ENSG00000122786	ENST00000361675	T	0.31769	1.48	4.9	-9.79	0.00494	.	1.201870	0.06505	N	0.737000	T	0.12561	0.0305	N	0.08118	0	0.09310	N	0.999999	P	0.37708	0.606	B	0.29785	0.107	T	0.22138	-1.0225	9	.	.	.	4.346	17.0358	0.86474	0.0668:0.0:0.1009:0.8323	.	388	Q05682	CALD1_HUMAN	H	388	ENSP00000354826:R388H	.	R	+	2	0	CALD1	134269223	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.365000	0.02587	-2.504000	0.00508	-0.457000	0.05445	CGT	CALD1	-	pfam_Caldesmon_LSP		0.448	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	G	NM_033138		134618683	+1	no_errors	ENST00000361675	ensembl	human	novel	70_37	missense	SNP	0.000	A
CANX	821	genome.wustl.edu	37	5	179151711	179151711	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:179151711G>A	ENST00000247461.4	+	13	1772	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	CANX_ENST00000504734.1_Silent_p.V524V|CANX_ENST00000415618.2_Silent_p.V559V|CANX_ENST00000452673.2_Silent_p.V524V|CANX_ENST00000512607.2_Silent_p.V416V	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	524	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AACCGGATGTGAaggaagagg	0.413																																																	0													110.0	106.0	107.0					5																	179151711		2203	4300	6503	SO:0001819	synonymous_variant	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1572G>A	5.37:g.179151711G>A			B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.V559	ENST00000247461.4	37	c.1677	CCDS4447.1	5																																																																																			CANX	-	NULL		0.413	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179151711	+1	no_errors	ENST00000415618	ensembl	human	known	70_37	silent	SNP	1.000	A
CARD14	79092	genome.wustl.edu	37	17	78176112	78176112	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:78176112C>T	ENST00000573882.1	+	17	2648	c.2112C>T	c.(2110-2112)caC>caT	p.H704H	RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000344227.2_Silent_p.H704H|CARD14_ENST00000392434.2_Missense_Mutation_p.T425M|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000570421.1_Silent_p.H704H			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	704					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGTCCTGCACGTCACCGACA	0.622																																																	0													73.0	63.0	66.0					17																	78176112		2203	4300	6503	SO:0001819	synonymous_variant	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2112C>T	17.37:g.78176112C>T			B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_PDZ	p.T425M	ENST00000573882.1	37	c.1274	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398845	0.11696	.	.	ENSG00000141527	ENST00000392434	T	0.16897	2.31	5.05	-8.68	0.00859	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.21445	N	0.999686	.	.	.	.	.	.	T	0.46205	-0.9208	6	0.87932	D	0	-28.1936	16.0761	0.80969	0.0:0.3243:0.0:0.6757	.	.	.	.	M	425	ENSP00000376229:T425M	ENSP00000376229:T425M	T	+	2	0	CARD14	75790707	0.001000	0.12720	0.679000	0.29978	0.580000	0.36256	-1.989000	0.01480	-1.849000	0.01171	-0.140000	0.14226	ACG	CARD14	-	NULL		0.622	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78176112	+1	no_errors	ENST00000392434	ensembl	human	known	70_37	missense	SNP	0.511	T
CD8A	925	genome.wustl.edu	37	2	87017672	87017672	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:87017672C>G	ENST00000409511.2	-	5	1212	c.182G>C	c.(181-183)cGc>cCc	p.R61P	CD8A_ENST00000409781.1_Missense_Mutation_p.R61P|CD8A_ENST00000456996.2_Missense_Mutation_p.R61P|CD8A_ENST00000538832.1_Missense_Mutation_p.R102P|CD8A_ENST00000352580.3_Missense_Mutation_p.R61P|CD8A_ENST00000283635.3_Missense_Mutation_p.R61P	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	61	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGCGGCGCCGCGCGGCTGGAA	0.672																																																	0													31.0	39.0	36.0					2																	87017672		2200	4297	6497	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.182G>C	2.37:g.87017672C>G	ENSP00000386559:p.Arg61Pro		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R102P	ENST00000409511.2	37	c.305	CCDS1992.1	2	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821322	0.16678	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.69	-2.69	0.06022	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	2.296160	0.01469	N	0.016191	T	0.11410	0.0278	N	0.00453	-1.485	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.15464	-1.0436	10	0.13853	T	0.58	-7.6347	3.6034	0.08032	0.231:0.1895:0.4804:0.099	.	102;61;61	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	P	61;61;61;61;61;102;61	ENSP00000398868:R61P;ENSP00000321631:R61P;ENSP00000283635:R61P;ENSP00000386559:R61P;ENSP00000438371:R102P;ENSP00000387314:R61P	ENSP00000283635:R61P	R	-	2	0	CD8A	86871183	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.547000	0.00931	-0.350000	0.08262	-0.305000	0.09177	CGC	CD8A	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.672	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	C	NM_001768		87017672	-1	no_errors	ENST00000538832	ensembl	human	known	70_37	missense	SNP	0.000	G
CELF2	10659	genome.wustl.edu	37	10	11299828	11299828	+	Silent	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:11299828G>C	ENST00000379261.4	+	5	602	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CELF2_ENST00000537122.1_Silent_p.L59L|CELF2_ENST00000315874.4_Silent_p.L146L|CELF2_ENST00000354440.2_Silent_p.L146L|CELF2_ENST00000417956.2_Silent_p.L146L|CELF2_ENST00000542579.1_Silent_p.L177L|CELF2_ENST00000608830.1_Silent_p.L146L|CELF2_ENST00000609692.1_Silent_p.L146L|CELF2_ENST00000427450.1_Silent_p.L146L|CELF2_ENST00000399850.3_Silent_p.L146L|CELF2_ENST00000416382.2_Silent_p.L170L|CELF2_ENST00000354897.3_Silent_p.L146L|CELF2_ENST00000450189.1_Silent_p.L177L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	170	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTGATGGGCTGAGTCGAGGTG	0.522																																																	0													80.0	85.0	84.0					10																	11299828		2083	4239	6322	SO:0001819	synonymous_variant	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.510G>C	10.37:g.11299828G>C			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.L177	ENST00000379261.4	37	c.531	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.522	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		G			11299828	+1	no_errors	ENST00000450189	ensembl	human	known	70_37	silent	SNP	1.000	C
CLCN4	1183	genome.wustl.edu	37	X	10181774	10181774	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:10181774G>A	ENST00000380833.4	+	11	2021	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	CLCN4_ENST00000421085.2_Missense_Mutation_p.G450R|CLCN4_ENST00000380829.1_Missense_Mutation_p.G513R|AC003666.1_ENST00000410201.1_RNA	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G544W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAATTAACCGGGGGTCTGGA	0.552																																					Melanoma(74;1050 1296 1576 30544 38374)												1	Substitution - Missense(1)	lung(1)											107.0	101.0	103.0					X																	10181774		2203	4300	6503	SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1630G>A	X.37:g.10181774G>A	ENSP00000370213:p.Gly544Arg		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.G544R	ENST00000380833.4	37	c.1630	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784364	0.90282	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94828	-3.53;-3.53;-3.53	5.4	5.4	0.78164	Chloride channel, core (2);	0.096472	0.64402	D	0.000001	D	0.97901	0.9310	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98945	1.0792	10	0.87932	D	0	-25.6632	18.3217	0.90241	0.0:0.0:1.0:0.0	.	544	P51793	CLCN4_HUMAN	R	544;513;450	ENSP00000370213:G544R;ENSP00000370209:G513R;ENSP00000405754:G450R	ENSP00000370209:G513R	G	+	1	0	CLCN4	10141774	1.000000	0.71417	0.057000	0.19452	0.955000	0.61496	9.667000	0.98616	2.267000	0.75376	0.600000	0.82982	GGG	CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.552	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	G			10181774	+1	no_errors	ENST00000380833	ensembl	human	known	70_37	missense	SNP	0.999	A
CNOT3	4849	genome.wustl.edu	37	19	54649372	54649372	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:54649372G>C	ENST00000406403.1	+	7	2125	c.522G>C	c.(520-522)gaG>gaC	p.E174D	CNOT3_ENST00000221232.5_Missense_Mutation_p.E174D|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	174					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCACATCGAGAAGCACCGCT	0.627																																																	0													131.0	88.0	103.0					19																	54649372		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.522G>C	19.37:g.54649372G>C	ENSP00000383954:p.Glu174Asp		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E174D	ENST00000406403.1	37	c.522	CCDS12880.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.439613|3.439613	0.63067|0.63067	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403|ENST00000440571	T;T|.	0.51817|.	0.69;0.69|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62208|0.62208	0.2409|0.2409	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.992;0.992;0.999|.	D;D;D|.	0.80764|.	0.989;0.989;0.994|.	T|T	0.58200|0.58200	-0.7678|-0.7678	10|5	0.19147|.	T|.	0.46|.	-34.3047|-34.3047	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174;174;98|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	D|T	174|96	ENSP00000221232:E174D;ENSP00000383954:E174D|.	ENSP00000221232:E174D|.	E|R	+|+	3|2	2|0	CNOT3|CNOT3	59341184|59341184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.419000|4.419000	0.59835|0.59835	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GAG|AGA	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.627	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54649372	+1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	C
CNPY3	10695	genome.wustl.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																																	1	Deletion - In frame(1)	central_nervous_system(1)																																								SO:0001651	inframe_deletion	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	pfam_DUF3456	p.L21in_frame_del	ENST00000372836.4	37	c.50_52	CCDS4875.1	6																																																																																			CNPY3	-	NULL		0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	TGC	NM_006586		42897360	+1	no_errors	ENST00000372836	ensembl	human	known	70_37	in_frame_del	DEL	0.122:0.131:0.153	-
COL6A6	131873	genome.wustl.edu	37	3	130286029	130286029	+	Missense_Mutation	SNP	G	G	C	rs545500523		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:130286029G>C	ENST00000358511.6	+	4	1797	c.1766G>C	c.(1765-1767)aGa>aCa	p.R589T	COL6A6_ENST00000453409.2_Missense_Mutation_p.R589T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	589	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGGAAAAGAGAGTGTATTAC	0.428																																																	0													71.0	71.0	71.0					3																	130286029		1962	4158	6120	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1766G>C	3.37:g.130286029G>C	ENSP00000351310:p.Arg589Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R589T	ENST00000358511.6	37	c.1766	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435749	0.43224	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83335	-1.71;-1.71	5.5	3.72	0.42706	von Willebrand factor, type A (3);	0.097898	0.45867	D	0.000336	D	0.84763	0.5544	L	0.58810	1.83	0.09310	N	0.999997	D	0.58268	0.982	P	0.59825	0.864	T	0.73855	-0.3851	10	0.22706	T	0.39	.	8.4655	0.32953	0.2392:0.0:0.7608:0.0	.	589	A6NMZ7	CO6A6_HUMAN	T	589	ENSP00000351310:R589T;ENSP00000399236:R589T	ENSP00000351310:R589T	R	+	2	0	COL6A6	131768719	1.000000	0.71417	0.196000	0.23383	0.653000	0.38743	3.106000	0.50322	0.705000	0.31890	-0.266000	0.10368	AGA	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	G	NM_001102608		130286029	+1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	0.268	C
CRTC3	64784	genome.wustl.edu	37	15	91181971	91181971	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:91181971C>T	ENST00000268184.6	+	13	1476	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	CRTC3_ENST00000420329.2_Missense_Mutation_p.S491L|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	491					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGAAGGGCTCATCTTTGACC	0.542			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													135.0	123.0	127.0					15																	91181971		2198	4298	6496	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1472C>T	15.37:g.91181971C>T	ENSP00000268184:p.Ser491Leu		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	NULL	p.S491L	ENST00000268184.6	37	c.1472	CCDS32331.1	15	.	.	.	.	.	.	.	.	.	.	C	0.715	-0.785836	0.02907	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12361	2.71;2.69	5.55	4.64	0.57946	.	1.148490	0.06240	N	0.690272	T	0.15869	0.0382	L	0.44542	1.39	0.26816	N	0.9689	B;B	0.22683	0.043;0.073	B;B	0.18561	0.01;0.022	T	0.18903	-1.0322	10	0.59425	D	0.04	-6.2835	10.3688	0.44042	0.0:0.9121:0.0:0.0879	.	491;491	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	455;491;491	ENSP00000268184:S491L;ENSP00000416573:S491L	ENSP00000268184:S491L	S	+	2	0	CRTC3	88982975	0.960000	0.32886	0.429000	0.26710	0.007000	0.05969	3.282000	0.51693	1.588000	0.49971	-0.150000	0.13652	TCA	CRTC3	-	NULL		0.542	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	C	NM_022769		91181971	+1	no_errors	ENST00000268184	ensembl	human	known	70_37	missense	SNP	0.447	T
CUBN	8029	genome.wustl.edu	37	10	17113832	17113832	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:17113832G>C	ENST00000377833.4	-	18	2505	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	814	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCGACTTGATAAACAGCT	0.299																																																	0													61.0	62.0	62.0					10																	17113832		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2440C>G	10.37:g.17113832G>C	ENSP00000367064:p.Gln814Glu		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Q814E	ENST00000377833.4	37	c.2440	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	6.519	0.464073	0.12402	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.31	5.31	0.75309	CUB (4);	0.000000	0.37761	N	0.001945	T	0.19604	0.0471	L	0.28504	0.86	0.80722	D	1	B	0.31837	0.342	B	0.24974	0.057	T	0.03840	-1.0999	10	0.06494	T	0.89	.	15.4062	0.74881	0.0:0.1395:0.8605:0.0	.	814	O60494	CUBN_HUMAN	E	814	ENSP00000367064:Q814E	ENSP00000367064:Q814E	Q	-	1	0	CUBN	17153838	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.047000	0.41269	2.499000	0.84300	0.454000	0.30748	CAA	CUBN	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.299	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17113832	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	C
CUEDC2	79004	genome.wustl.edu	37	10	104184033	104184033	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:104184033G>T	ENST00000369937.4	-	5	544	c.399C>A	c.(397-399)gaC>gaA	p.D133E	CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	133						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATCTTGGGTGTCTGCAGCAG	0.582																																																	0													61.0	65.0	64.0					10																	104184033		1897	4096	5993	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.399C>A	10.37:g.104184033G>T	ENSP00000358953:p.Asp133Glu		D3DR88|Q9BWG8	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,pfscan_CUE	p.D133E	ENST00000369937.4	37	c.399	CCDS41566.1	10	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.117949	0.01785	.	.	ENSG00000107874	ENST00000369937	D	0.87334	-2.24	4.5	-4.86	0.03132	.	0.769713	0.12697	N	0.446636	T	0.65080	0.2657	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52396	-0.8581	10	0.42905	T	0.14	-2.447	1.2007	0.01884	0.3831:0.2641:0.219:0.1339	.	133	Q9H467	CUED2_HUMAN	E	133	ENSP00000358953:D133E	ENSP00000358953:D133E	D	-	3	2	CUEDC2	104174023	0.041000	0.20044	0.121000	0.21740	0.470000	0.32858	0.177000	0.16801	-0.673000	0.05259	0.561000	0.74099	GAC	CUEDC2	-	superfamily_UBA-like		0.582	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC2	HGNC	protein_coding	OTTHUMT00000050060.1	G	NM_024040		104184033	-1	no_errors	ENST00000369937	ensembl	human	known	70_37	missense	SNP	0.003	T
CXCR4	7852	genome.wustl.edu	37	2	136872945	136872945	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:136872945T>C	ENST00000241393.3	-	2	657	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	CXCR4_ENST00000409817.1_Missense_Mutation_p.I189V|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CGGTCACAGATATATCTGTCA	0.512																																																	0													133.0	119.0	124.0					2																	136872945		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.553A>G	2.37:g.136872945T>C	ENSP00000241393:p.Ile185Val		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.I189V	ENST00000241393.3	37	c.565	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.404364	0.01155	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.36340	1.26;1.26	6.17	0.829	0.18847	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.12178	0.0296	N	0.02697	-0.525	0.24619	N	0.993682	B;B	0.10296	0.001;0.003	B;B	0.15052	0.012;0.002	T	0.33240	-0.9876	10	0.13470	T	0.59	.	1.4771	0.02429	0.1161:0.2339:0.2648:0.3852	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	V	189;185;55	ENSP00000386884:I189V;ENSP00000241393:I185V	ENSP00000241393:I185V	I	-	1	0	CXCR4	136589415	0.036000	0.19791	0.480000	0.27341	0.402000	0.30811	0.259000	0.18405	0.527000	0.28560	0.533000	0.62120	ATC	CXCR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	T			136872945	-1	no_errors	ENST00000409817	ensembl	human	known	70_37	missense	SNP	0.034	C
DCAF8	50717	genome.wustl.edu	37	1	160187440	160187440	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:160187440G>A	ENST00000368073.3	-	14	2170	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	DCAF8_ENST00000556710.1_Missense_Mutation_p.S733F|DCAF8_ENST00000368074.1_Missense_Mutation_p.S579F|DCAF8_ENST00000326837.2_Missense_Mutation_p.S579F|DCAF8_ENST00000608310.1_Missense_Mutation_p.S733F			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	579					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGTCTGAGGAGCTGGGAGA	0.612																																																	0													68.0	69.0	68.0					1																	160187440		2203	4300	6503	SO:0001583	missense	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1736C>T	1.37:g.160187440G>A	ENSP00000357052:p.Ser579Phe		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S733F	ENST00000368073.3	37	c.2198	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718889	0.68844	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.23;-0.23	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000020	T	0.76772	0.4034	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.979	T	0.78196	-0.2298	10	0.72032	D	0.01	-9.0091	17.7322	0.88380	0.0:0.0:1.0:0.0	.	733;579	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	F	579;579;579;733;560;733	ENSP00000357052:S579F;ENSP00000318227:S579F;ENSP00000357053:S579F;ENSP00000451989:S733F;ENSP00000451235:S733F	ENSP00000318227:S579F	S	-	2	0	RP11-574F21.3;DCAF8	158454064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	2.721000	0.93114	0.655000	0.94253	TCC	DCAF8	-	NULL		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	G	NM_015726		160187440	-1	no_errors	ENST00000555195	ensembl	human	known	70_37	missense	SNP	1.000	A
DGKD	8527	genome.wustl.edu	37	2	234294806	234294806	+	Intron	DEL	T	T	-			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:234294806delT	ENST00000264057.2	+	2	168				DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_5'Flank	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGGTTTTGTCTTTTTTTTTTT	0.408																																																	0																																										SO:0001627	intron_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.157-2097T>-	2.37:g.234294806delT			Q14158|Q6PK55|Q8NG53	RNA	DEL	-	NULL	ENST00000264057.2	37	NULL	CCDS2504.1	2																																																																																			DGKD	-	-		0.408	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	T	NM_003648		234294806	+1	no_errors	ENST00000489613	ensembl	human	putative	70_37	rna	DEL	0.000	-
DIDO1	11083	genome.wustl.edu	37	20	61511181	61511181	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:61511181C>T	ENST00000266070.4	-	16	6452	c.6127G>A	c.(6127-6129)Gag>Aag	p.E2043K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2043K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2043					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)					GGCCCGGCCTCCTCCCAGCGG	0.741																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													29.0	36.0	33.0					20																	61511181		1986	3914	5900	SO:0001583	missense	11083			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.6127G>A	20.37:g.61511181C>T	ENSP00000266070:p.Glu2043Lys		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.E2043K	ENST00000266070.4	37	c.6127	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638611	0.29157	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09350	2.99;2.99	4.96	4.96	0.65561	.	0.000000	0.43579	D	0.000555	T	0.09379	0.0231	L	0.39633	1.23	0.32275	N	0.568386	B	0.21905	0.062	B	0.16289	0.015	T	0.08289	-1.0729	10	0.19590	T	0.45	-8.2934	11.6844	0.51476	0.0:0.9179:0.0:0.0821	.	2043	Q9BTC0	DIDO1_HUMAN	K	2043	ENSP00000266070:E2043K;ENSP00000378752:E2043K	ENSP00000266070:E2043K	E	-	1	0	DIDO1	60981626	0.983000	0.35010	0.180000	0.23079	0.332000	0.28634	3.430000	0.52807	2.292000	0.77174	0.561000	0.74099	GAG	DIDO1	-	NULL		0.741	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61511181	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.066	T
DNAJC14	85406	genome.wustl.edu	37	12	56216892	56216892	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:56216892C>T	ENST00000357606.3	-	5	1885	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	RP11-762I7.5_ENST00000552719.1_5'Flank|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.E162K|DNAJC14_ENST00000317269.3_Missense_Mutation_p.M532I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.M532I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	532					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCATAGTATTCATTGCCTCCT	0.438																																																	0													171.0	143.0	153.0					12																	56216892		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1596G>A	12.37:g.56216892C>T	ENSP00000350223:p.Met532Ile		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.M532I	ENST00000357606.3	37	c.1596	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.660022|3.660022	0.67586|0.67586	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287;ENST00000540330	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.25441	.|0.126;0.126	.|B;B	.|0.19946	.|0.027;0.027	T|T	0.03051|0.03051	-1.1078|-1.1078	5|10	.|0.34782	.|T	.|0.22	-5.7822|-5.7822	18.0364|18.0364	0.89305|0.89305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|532;532	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	K|I	162|532;532;242;532;28	.|ENSP00000350223:M532I;ENSP00000316240:M532I;ENSP00000317500:M532I	.|ENSP00000316240:M532I	E|M	-|-	1|3	0|0	RP11-762I7.5|DNAJC14	54503159|54503159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.159000|7.159000	0.77483|0.77483	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|ATG	DNAJC14	-	NULL		0.438	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56216892	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	T
DUOX2	50506	genome.wustl.edu	37	15	45404058	45404058	+	Missense_Mutation	SNP	C	C	T	rs376160362		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:45404058C>T	ENST00000603300.1	-	5	623	c.421G>A	c.(421-423)Gac>Aac	p.D141N	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.D141N	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	141	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGGTCGGGGTCGAACACGGGG	0.687																																																	0								C	ASN/ASP	0,4396		0,0,2198	29.0	28.0	28.0		421	5.2	1.0	15		28	1,8595		0,1,4297	no	missense	DUOX2	NM_014080.4	23	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	141/1549	45404058	1,12991	2198	4298	6496	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.421G>A	15.37:g.45404058C>T	ENSP00000475084:p.Asp141Asn		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.D141N	ENST00000603300.1	37	c.421	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	.	36	5.782155	0.96937	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.22	5.22	0.72569	.	0.048594	0.85682	D	0.000000	T	0.77130	0.4085	M	0.80422	2.495	0.80722	D	1	D	0.56287	0.975	P	0.56916	0.809	T	0.79451	-0.1798	9	0.51188	T	0.08	-15.5955	17.7657	0.88477	0.0:1.0:0.0:0.0	.	141	Q9NRD8	DUOX2_HUMAN	N	141	.	ENSP00000373691:D141N	D	-	1	0	DUOX2	43191350	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.423000	0.80229	2.460000	0.83146	0.561000	0.74099	GAC	DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		C	NM_014080		45404058	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	missense	SNP	1.000	T
ECE2	9718	genome.wustl.edu	37	3	184008096	184008096	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:184008096C>G	ENST00000402825.3	+	14	1959	c.1959C>G	c.(1957-1959)ttC>ttG	p.F653L	ECE2_ENST00000404464.3_Missense_Mutation_p.F535L|ECE2_ENST00000359140.4_Missense_Mutation_p.F506L|ECE2_ENST00000357474.5_Missense_Mutation_p.F581L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	653	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTACAACTTCTCTGCCAAGG	0.493																																																	0													53.0	50.0	51.0					3																	184008096		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1959C>G	3.37:g.184008096C>G	ENSP00000384223:p.Phe653Leu		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.F653L	ENST00000402825.3	37	c.1959	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968083	0.74131	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.04	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.88842	2.985	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.951;0.999;0.999;0.997	D	0.90246	0.4290	10	0.59425	D	0.04	-20.2039	10.795	0.46455	0.0:0.7425:0.0:0.2575	.	255;506;524;535;581;506;653	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	L	653;506;535;581;527	ENSP00000384223:F653L;ENSP00000352052:F506L;ENSP00000385846:F535L;ENSP00000350066:F581L;ENSP00000398444:F527L	ENSP00000350066:F581L	F	+	3	2	ECE2	185490790	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.454000	0.44979	0.522000	0.28464	0.448000	0.29417	TTC	ECE2	-	NULL		0.493	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	C	NM_014693		184008096	+1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	1.000	G
ELFN1	392617	genome.wustl.edu	37	7	1785298	1785298	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:1785298G>A	ENST00000424383.2	+	3	1553	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	ELFN1_ENST00000561626.1_Missense_Mutation_p.V356M|ELFN1_ENST00000541472.1_Missense_Mutation_p.V356M			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	356	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GGCCTCCACCGTGTCCAGGCT	0.622																																																	0													54.0	55.0	55.0					7																	1785298		692	1591	2283	SO:0001583	missense	392617				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1066G>A	7.37:g.1785298G>A	ENSP00000456548:p.Val356Met		H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V356M	ENST00000424383.2	37	c.1066	CCDS59046.1	7																																																																																			ELFN1	-	superfamily_Fibronectin_type3		0.622	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	G	NM_001128636		1785298	+1	no_errors	ENST00000424383	ensembl	human	known	70_37	missense	SNP	0.977	A
TPSD1	23430	genome.wustl.edu	37	16	1311359	1311359	+	IGR	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:1311359G>C	ENST00000211076.3	+	0	963				PRSS29P_ENST00000568091.1_lincRNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CGTGGGTGTAGACGCCGGGAA	0.692																																																	0																																										SO:0001628	intergenic_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511		16.37:g.1311359G>C			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	RNA	SNP	-	NULL	ENST00000211076.3	37	NULL	CCDS10432.1	16																																																																																			RP11-616M22.6	-	-		0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000196364	Clone_based_vega_gene	protein_coding	OTTHUMT00000250320.2	G			1311359	-1	no_errors	ENST00000440800	ensembl	human	known	70_37	rna	SNP	1.000	C
TMEM150C	441027	genome.wustl.edu	37	4	83417157	83417157	+	Intron	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:83417157G>C	ENST00000515780.2	-	6	568				TMEM150C_ENST00000449862.2_Intron|RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000508701.1_Intron			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral component of membrane (GO:0016021)				ovary(1)	1						CAATAGCTTTGATAGTCTCAG	0.413																																																	0																																										SO:0001627	intron_variant	0			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.363+63C>G	4.37:g.83417157G>C			B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	RNA	SNP	-	NULL	ENST00000515780.2	37	NULL	CCDS47087.1	4																																																																																			RP11-791G16.2	-	-		0.413	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000227304	Clone_based_vega_gene	protein_coding	OTTHUMT00000363685.2	G	NM_001080506		83417157	-1	no_errors	ENST00000488045	ensembl	human	known	70_37	rna	SNP	0.000	C
TENM4	26011	genome.wustl.edu	37	11	78807960	78807961	+	Intron	DEL	TG	TG	-	rs376867043|rs66695606|rs369257696|rs398016808		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:78807960_78807961delTG	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.65-26906CA>-	11.37:g.78807960_78807961delTG			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	DEL	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			CTD-2337I7.1	-	-		0.485	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255345	Clone_based_vega_gene	protein_coding	OTTHUMT00000391406.2	TG			78807961	+1	no_errors	ENST00000526091	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
CTD-2311B13.7	0	genome.wustl.edu	37	14	19969313	19969313	+	lincRNA	SNP	T	T	A	rs201001641		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:19969313T>A	ENST00000547399.1	-	0	2979																											GTCTTCACCATTGTGTAGTTT	0.274																																																	0																																												0																															14.37:g.19969313T>A				RNA	SNP	-	NULL	ENST00000547399.1	37	NULL		14																																																																																			CTD-2311B13.7	-	-		0.274	CTD-2311B13.7-001	KNOWN	basic	lincRNA	ENSG00000257931	Clone_based_vega_gene	lincRNA	OTTHUMT00000409457.1	T			19969313	-1	no_errors	ENST00000547399	ensembl	human	known	70_37	rna	SNP	0.005	A
ENTPD4	9583	genome.wustl.edu	37	8	23292045	23292046	+	Intron	DEL	CA	CA	-	rs139348326		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:23292045_23292046delCA	ENST00000358689.4	-	12	1696				ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4						UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCAAGATGGcacacacacaca	0.545																																																	0																																										SO:0001627	intron_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1461-54TG>-	8.37:g.23292055_23292056delCA			D3DSS3|O15092	RNA	DEL	-	NULL	ENST00000358689.4	37	NULL	CCDS6041.1	8																																																																																			ENTPD4	-	-		0.545	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	CA	NM_004901		23292046	-1	no_errors	ENST00000522913	ensembl	human	known	70_37	rna	DEL	0.000:0.000	-
EP400	57634	genome.wustl.edu	37	12	132466052	132466052	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:132466052G>C	ENST00000333577.4	+	5	1671	c.1562G>C	c.(1561-1563)cGc>cCc	p.R521P	EP400_ENST00000389561.2_Missense_Mutation_p.R485P|EP400_ENST00000389562.2_Missense_Mutation_p.R484P|EP400_ENST00000330386.6_Missense_Mutation_p.R485P|EP400_ENST00000332482.4_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	521					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aagaGGCCTCGCCTTGAAGTG	0.463																																																	0													42.0	37.0	39.0					12																	132466052		2202	4299	6501	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1562G>C	12.37:g.132466052G>C	ENSP00000333602:p.Arg521Pro		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R521P	ENST00000333577.4	37	c.1562		12	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956779	0.53293	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D	0.94723	-3.5;-2.7;-2.66;-2.69	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.63428	1.95	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96962	0.9702	10	0.72032	D	0.01	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	485;485;484;521	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8	.;.;.;.	P	521;485;484;485;521;485;485	ENSP00000333602:R521P;ENSP00000374212:R485P;ENSP00000374213:R484P;ENSP00000330620:R485P	ENSP00000330620:R485P	R	+	2	0	EP400	131032005	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	CGC	EP400	-	NULL		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132466052	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	C
EXOG	9941	genome.wustl.edu	37	3	38583288	38583288	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:38583288C>T	ENST00000358249.2	+	7	817	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L				Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	0					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						tgagagcccgctggggacaag	0.547																																																	0																																										SO:0001819	synonymous_variant	9941			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000358249.2:c.301C>T	3.37:g.38583288C>T			A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Silent	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.L101	ENST00000358249.2	37	c.301		3																																																																																			EXOG	-	smart_Extracellular_endonuc_su_A		0.547	EXOG-201	KNOWN	basic	protein_coding	EXOG	HGNC	protein_coding		C	NM_005107		38583288	+1	no_errors	ENST00000358249	ensembl	human	known	70_37	silent	SNP	0.000	T
FAM120A	23196	genome.wustl.edu	37	9	96320130	96320130	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:96320130G>C	ENST00000277165.6	+	14	2700	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	FAM120A_ENST00000333936.5_Missense_Mutation_p.E864Q|FAM120A_ENST00000340893.4_Missense_Mutation_p.E836Q	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	836	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCAAGGTAGAGAAGATGCG	0.547																																																	0													60.0	55.0	56.0					9																	96320130		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2506G>C	9.37:g.96320130G>C	ENSP00000277165:p.Glu836Gln		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.E864Q	ENST00000277165.6	37	c.2590	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536093	0.85812	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.58358	0.79;0.84;0.72;0.34	5.85	4.93	0.64822	.	0.081591	0.50627	D	0.000105	T	0.65207	0.2669	L	0.42744	1.35	0.53005	D	0.999967	D;P;D	0.71674	0.998;0.862;0.957	D;P;P	0.68353	0.957;0.69;0.871	T	0.68891	-0.5289	10	0.87932	D	0	-17.9443	15.9749	0.80054	0.0:0.0:0.8641:0.1358	.	836;864;836	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	Q	836;864;836;258	ENSP00000277165:E836Q;ENSP00000334918:E864Q;ENSP00000344698:E836Q;ENSP00000412440:E258Q	ENSP00000277165:E836Q	E	+	1	0	FAM120A	95359951	1.000000	0.71417	0.712000	0.30502	0.989000	0.77384	9.675000	0.98638	1.405000	0.46838	0.655000	0.94253	GAG	FAM120A	-	NULL		0.547	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	G	NM_014612		96320130	+1	no_errors	ENST00000333936	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM151A	338094	genome.wustl.edu	37	1	55075436	55075436	+	Silent	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:55075436G>C	ENST00000302250.2	-	8	1423	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	421						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGGATGGCCGGAGGGCTGCGG	0.627																																																	0													41.0	45.0	44.0					1																	55075436		2203	4300	6503	SO:0001819	synonymous_variant	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1263C>G	1.37:g.55075436G>C			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	pfam_DUF2181	p.L421	ENST00000302250.2	37	c.1263	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181		0.627	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55075436	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	silent	SNP	0.999	C
FAM151A	338094	genome.wustl.edu	37	1	55075447	55075447	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:55075447G>C	ENST00000302250.2	-	8	1412	c.1252C>G	c.(1252-1254)Ccc>Gcc	p.P418A	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	418						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGGCTGCGGGCTCCGCTATT	0.622																																																	0													43.0	46.0	45.0					1																	55075447		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1252C>G	1.37:g.55075447G>C	ENSP00000306888:p.Pro418Ala		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.P418A	ENST00000302250.2	37	c.1252	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994688	0.19043	.	.	ENSG00000162391	ENST00000302250	T	0.10477	2.87	4.17	4.17	0.49024	.	0.092272	0.45867	D	0.000337	T	0.24967	0.0606	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04767	-1.0928	10	0.07990	T	0.79	-27.945	12.2934	0.54831	0.0:0.0:1.0:0.0	.	418	Q8WW52	F151A_HUMAN	A	418	ENSP00000306888:P418A	ENSP00000306888:P418A	P	-	1	0	FAM151A	54848035	0.954000	0.32549	0.430000	0.26722	0.102000	0.19082	1.894000	0.39768	2.608000	0.88229	0.655000	0.94253	CCC	FAM151A	-	pfam_DUF2181		0.622	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55075447	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	missense	SNP	0.864	C
FAM47B	170062	genome.wustl.edu	37	X	34962465	34962465	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:34962465C>G	ENST00000329357.5	+	1	1553	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	506										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGTGTGCTTCAAGGCTGATG	0.478																																																	0													112.0	101.0	105.0					X																	34962465		2202	4300	6502	SO:0001587	stop_gained	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1517C>G	X.37:g.34962465C>G	ENSP00000328307:p.Ser506*		Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	NULL	p.S506*	ENST00000329357.5	37	c.1517	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154024	0.38021	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	.	.	.	.	.	.	.	X	506	.	ENSP00000328307:S506X	S	+	2	0	FAM47B	34872386	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.303000	0.19210	0.288000	0.22398	0.292000	0.19580	TCA	FAM47B	-	NULL		0.478	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34962465	+1	no_errors	ENST00000329357	ensembl	human	known	70_37	nonsense	SNP	0.003	G
FAM71B	153745	genome.wustl.edu	37	5	156589475	156589475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:156589475delC	ENST00000302938.4	-	2	1896	c.1801delG	c.(1801-1803)gaafs	p.E601fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	601						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTTGGTTTCAAAGACGATC	0.507																																																	0													151.0	155.0	154.0					5																	156589475		2203	4300	6503	SO:0001589	frameshift_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1801delG	5.37:g.156589475delC	ENSP00000305596:p.Glu601fs		Q1EDD9|Q8TC64|Q96LY8	Frame_Shift_Del	DEL	pfam_DUF3699	p.E601fs	ENST00000302938.4	37	c.1801	CCDS4335.1	5																																																																																			FAM71B	-	NULL		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	C	NM_130899		156589475	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-
FAM71B	153745	genome.wustl.edu	37	5	156589551	156589551	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:156589551C>G	ENST00000302938.4	-	2	1820	c.1725G>C	c.(1723-1725)gaG>gaC	p.E575D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	575						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGGCTTTCTCCACTTTGG	0.488																																																	0													277.0	273.0	274.0					5																	156589551		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1725G>C	5.37:g.156589551C>G	ENSP00000305596:p.Glu575Asp		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.E575D	ENST00000302938.4	37	c.1725	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724192	0.89298	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	3.87	3.87	0.44632	.	0.000000	0.41712	D	0.000836	T	0.44787	0.1310	M	0.77103	2.36	0.31478	N	0.667572	D	0.76494	0.999	D	0.80764	0.994	T	0.52931	-0.8509	10	0.72032	D	0.01	-36.1714	11.6268	0.51151	0.0:1.0:0.0:0.0	.	575	Q8TC56	FA71B_HUMAN	D	575	ENSP00000305596:E575D	ENSP00000305596:E575D	E	-	3	2	FAM71B	156522129	0.970000	0.33590	0.987000	0.45799	0.718000	0.41266	0.584000	0.23864	2.440000	0.82611	0.655000	0.94253	GAG	FAM71B	-	NULL		0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	C	NM_130899		156589551	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.991	G
FANCA	2175	genome.wustl.edu	37	16	89865582	89865582	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:89865582C>T	ENST00000389301.3	-	10	915	c.885G>A	c.(883-885)gtG>gtA	p.V295V	FANCA_ENST00000563673.1_Silent_p.V295V|FANCA_ENST00000568369.1_Silent_p.V295V|FANCA_ENST00000389302.3_Silent_p.V295V|FANCA_ENST00000543736.1_Silent_p.V263V|FANCA_ENST00000534992.1_Silent_p.V295V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	295					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)		ACCAGCACCTCACGATCTTGT	0.512			"""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													123.0	110.0	114.0					16																	89865582		2198	4300	6498	SO:0001819	synonymous_variant	2175	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.885G>A	16.37:g.89865582C>T			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	pfam_Fanconia,prints_Fanconia	p.V295	ENST00000389301.3	37	c.885	CCDS32515.1	16																																																																																			FANCA	-	NULL		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89865582	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	silent	SNP	0.001	T
FLG	2312	genome.wustl.edu	37	1	152275919	152275919	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:152275919T>A	ENST00000368799.1	-	3	11478	c.11443A>T	c.(11443-11445)Aat>Tat	p.N3815Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3815	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCATTACGTGTTTCT	0.582									Ichthyosis																																								0													373.0	364.0	367.0					1																	152275919		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11443A>T	1.37:g.152275919T>A	ENSP00000357789:p.Asn3815Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.N3815Y	ENST00000368799.1	37	c.11443	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.455283	0.01071	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.47	-4.95	0.03048	.	.	.	.	.	T	0.00552	0.0018	L	0.54323	1.7	0.09310	N	1	P	0.49185	0.92	B	0.41036	0.346	T	0.17837	-1.0356	9	0.59425	D	0.04	.	1.1709	0.01825	0.131:0.2375:0.2603:0.3712	.	3815	P20930	FILA_HUMAN	Y	3815	ENSP00000357789:N3815Y	ENSP00000357789:N3815Y	N	-	1	0	FLG	150542543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.552000	0.00217	-3.334000	0.00185	-3.462000	0.00035	AAT	FLG	-	NULL		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	T	NM_002016		152275919	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A
FOXD4	2298	genome.wustl.edu	37	9	117889	117889	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:117889G>A	ENST00000382500.2	-	1	528	c.231C>T	c.(229-231)agC>agT	p.S77S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGAGGGGTCGCTCGGGCCGC	0.706																																																	0													38.0	63.0	55.0					9																	117889		2192	4290	6482	SO:0001819	synonymous_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.231C>T	9.37:g.117889G>A			B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S77	ENST00000382500.2	37	c.231	CCDS34975.1	9																																																																																			FOXD4	-	NULL		0.706	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	G	NM_207305		117889	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	silent	SNP	0.002	A
FRMPD4	9758	genome.wustl.edu	37	X	12734605	12734605	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:12734605A>T	ENST00000380682.1	+	15	2533	c.2027A>T	c.(2026-2028)gAt>gTt	p.D676V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	676					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACGCTACTAGATGAGGGTCCT	0.498																																																	0													152.0	163.0	159.0					X																	12734605		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2027A>T	X.37:g.12734605A>T	ENSP00000370057:p.Asp676Val		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.D676V	ENST00000380682.1	37	c.2027	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487123	0.63962	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.35236	1.32	5.86	4.7	0.59300	.	0.221201	0.45361	D	0.000367	T	0.45013	0.1321	M	0.65975	2.015	0.49915	D	0.999835	P;P	0.48589	0.912;0.912	P;P	0.48901	0.594;0.594	T	0.43442	-0.9391	10	0.87932	D	0	-22.3105	10.9108	0.47108	0.9262:0.0:0.0738:0.0	.	668;676	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	676;667;665	ENSP00000370057:D676V	ENSP00000304583:D665V	D	+	2	0	FRMPD4	12644526	1.000000	0.71417	0.025000	0.17156	0.797000	0.45037	7.071000	0.76770	0.839000	0.34971	0.486000	0.48141	GAT	FRMPD4	-	NULL		0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	A	XM_045712		12734605	+1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.995	T
FSTL5	56884	genome.wustl.edu	37	4	162459336	162459336	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:162459336C>T	ENST00000306100.5	-	10	1730	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	432						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTAGCAGAGTCTTCCACAAAA	0.403																																																	0													250.0	230.0	236.0					4																	162459336		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1294G>A	4.37:g.162459336C>T	ENSP00000305334:p.Asp432Asn		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.D432N	ENST00000306100.5	37	c.1294	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.067672	0.93898	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74315	-0.83;-0.81;-0.8;-0.81	5.17	5.17	0.71159	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.982;0.957	D	0.87118	0.2189	10	0.72032	D	0.01	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	431;431;432	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	432;431;431;431	ENSP00000305334:D432N;ENSP00000368462:D431N;ENSP00000389270:D431N;ENSP00000440409:D431N	ENSP00000305334:D432N	D	-	1	0	FSTL5	162678786	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	GAC	FSTL5	-	NULL		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162459336	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	T
GAL3ST1	9514	genome.wustl.edu	37	22	30951193	30951193	+	Missense_Mutation	SNP	C	C	T	rs150519649		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:30951193C>T	ENST00000402321.1	-	3	1336	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R340H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R340H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R340H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	340					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGTCCGCATGCGCTCGTTGGC	0.711													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15117	0.0		0.0	False		,,,				2504	0.0																0													22.0	23.0	23.0					22																	30951193		2200	4289	6489	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1019G>A	22.37:g.30951193C>T	ENSP00000385735:p.Arg340His		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R340H	ENST00000402321.1	37	c.1019	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529944	0.45073	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.55	2.34	0.29019	.	0.395415	0.29113	N	0.013101	T	0.14356	0.0347	L	0.46947	1.48	0.80722	D	1	B	0.12013	0.005	B	0.12837	0.008	T	0.05683	-1.0870	10	0.48119	T	0.1	-16.6481	7.6478	0.28331	0.0:0.5484:0.0:0.4516	.	340	Q99999	G3ST1_HUMAN	H	340	ENSP00000385825:R340H;ENSP00000385735:R340H;ENSP00000384122:R340H;ENSP00000384388:R340H;ENSP00000343234:R340H;ENSP00000385207:R340H;ENSP00000402587:R340H	ENSP00000343234:R340H	R	-	2	0	GAL3ST1	29281193	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.527000	0.35975	0.308000	0.22923	0.561000	0.74099	CGC	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	C	NM_004861		30951193	-1	no_errors	ENST00000338911	ensembl	human	known	70_37	missense	SNP	0.991	T
HECTD4	283450	genome.wustl.edu	37	12	112622247	112622247	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:112622247G>C	ENST00000430131.2	-	60	10402	c.9257C>G	c.(9256-9258)tCt>tGt	p.S3086C	HECTD4_ENST00000377560.5_Missense_Mutation_p.S3336C|HECTD4_ENST00000550722.1_Missense_Mutation_p.S3362C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3086					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGGATCCACAGAGAGGTCGCT	0.677																																																	0													21.0	27.0	25.0					12																	112622247		2185	4283	6468	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9257C>G	12.37:g.112622247G>C	ENSP00000404379:p.Ser3086Cys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S3336C	ENST00000430131.2	37	c.10007		12	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150721	0.21371	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54279	0.59;0.59;0.58	5.82	5.82	0.92795	.	.	.	.	.	T	0.44993	0.1320	N	0.19112	0.55	0.42552	D	0.993116	P	0.42785	0.79	B	0.40702	0.338	T	0.50608	-0.8808	9	0.72032	D	0.01	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	3086	Q9Y4D8	K0614_HUMAN	C	3336;3086;3362	ENSP00000366783:S3336C;ENSP00000404379:S3086C;ENSP00000449784:S3362C	ENSP00000366783:S3336C	S	-	2	0	C12orf51	111106630	1.000000	0.71417	0.967000	0.41034	0.012000	0.07955	4.913000	0.63341	2.757000	0.94681	0.655000	0.94253	TCT	HECTD4	-	NULL		0.677	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112622247	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	0.972	C
HECW1	23072	genome.wustl.edu	37	7	43484129	43484129	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:43484129C>T	ENST00000395891.2	+	11	1963	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	HECW1_ENST00000453890.1_Missense_Mutation_p.P453L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGCCTGCCCCCAGTGCAGAA	0.652																																																	0													15.0	19.0	17.0					7																	43484129		2097	4228	6325	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1358C>T	7.37:g.43484129C>T	ENSP00000379228:p.Pro453Leu		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.P453L	ENST00000395891.2	37	c.1358	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346893	0.41599	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.27890	1.64;1.64	5.31	-3.45	0.04781	.	9.951510	0.00166	N	0.000000	T	0.09774	0.0240	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13176	-1.0519	10	0.27082	T	0.32	.	3.8729	0.09044	0.0991:0.3713:0.1009:0.4287	.	453;453	B4DH42;Q76N89	.;HECW1_HUMAN	L	453	ENSP00000379228:P453L;ENSP00000407774:P453L	ENSP00000265522:P453L	P	+	2	0	HECW1	43450654	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	0.080000	0.14802	-0.847000	0.04168	-0.216000	0.12614	CCC	HECW1	-	NULL		0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43484129	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.000	T
HIST1H3I	8354	genome.wustl.edu	37	6	27839983	27839983	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:27839983C>G	ENST00000328488.2	-	1	116	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTGGGGCTTCTTGACGCCAC	0.672																																																	0													36.0	41.0	39.0					6																	27839983		2202	4298	6500	SO:0001583	missense	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.111G>C	6.37:g.27839983C>G	ENSP00000329554:p.Lys37Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.K37N	ENST00000328488.2	37	c.111	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773807	0.31411	.	.	ENSG00000182572	ENST00000328488	T	0.56103	0.48	4.12	3.26	0.37387	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.37317	D	0.909381	.	.	.	.	.	.	T	0.60919	-0.7167	6	0.87932	D	0	.	12.133	0.53955	0.0:0.9147:0.0:0.0853	.	.	.	.	N	37	ENSP00000329554:K37N	ENSP00000329554:K37N	K	-	3	2	HIST1H3I	27947962	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.989000	0.49393	1.325000	0.45301	-0.143000	0.13931	AAG	HIST1H3I	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.672	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	C	NM_003533		27839983	-1	no_errors	ENST00000328488	ensembl	human	known	70_37	missense	SNP	1.000	G
HM13	81502	genome.wustl.edu	37	20	30142485	30142485	+	Intron	DEL	A	A	-	rs375749810		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:30142485delA	ENST00000340852.5	+	8	848				HM13_ENST00000492709.1_Intron|HM13_ENST00000335574.5_Intron|HM13_ENST00000398174.3_Intron|HM13_ENST00000376127.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			actccgtctcaaaaaaaaaaa	0.552																																																	0																																										SO:0001627	intron_variant	81502			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.725-64A>-	20.37:g.30142485delA			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	RNA	DEL	-	NULL	ENST00000340852.5	37	NULL	CCDS13182.1	20																																																																																			HM13	-	-		0.552	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	A	NM_178580		30142485	+1	no_errors	ENST00000474466	ensembl	human	known	70_37	rna	DEL	0.172	-
HYDIN	54768	genome.wustl.edu	37	16	71127826	71127826	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:71127826C>T	ENST00000393567.2	-	11	1490	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	HYDIN_ENST00000321489.5_Missense_Mutation_p.R447H|HYDIN_ENST00000448089.2_Missense_Mutation_p.R447H|HYDIN_ENST00000448691.1_Missense_Mutation_p.R447H|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000393550.2_Missense_Mutation_p.R447H|HYDIN_ENST00000541601.1_Missense_Mutation_p.R464H|HYDIN_ENST00000288168.10_Missense_Mutation_p.R464H|HYDIN_ENST00000538248.1_Missense_Mutation_p.R474H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	447					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGGGGCAGACGGATTTCTCG	0.408																																																	0													58.0	57.0	57.0					16																	71127826		2198	4300	6498	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1340G>A	16.37:g.71127826C>T	ENSP00000377197:p.Arg447His		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.R447H	ENST00000393567.2	37	c.1340	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434713	0.83885	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.19532	5.09;3.3;3.35;3.35;3.34;3.33;3.03;2.14	4.95	4.95	0.65309	.	0.000000	0.28901	U	0.013774	T	0.52191	0.1719	M	0.86178	2.8	0.40151	D	0.976956	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.951	T	0.58578	-0.7612	10	0.46703	T	0.11	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	474;464;464;447;447	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	447;447;447;447;447;474;464;464;447	ENSP00000377197:R447H;ENSP00000398544:R447H;ENSP00000394826:R447H;ENSP00000314736:R447H;ENSP00000444970:R474H;ENSP00000437341:R464H;ENSP00000288168:R464H;ENSP00000377181:R447H	ENSP00000288168:R464H	R	-	2	0	HYDIN	69685327	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.458000	0.66679	2.337000	0.79520	0.194000	0.17425	CGT	HYDIN	-	NULL		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71127826	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	T
IKZF2	22807	genome.wustl.edu	37	2	214012328	214012328	+	Intron	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:214012328G>A	ENST00000434687.1	-	4	449				IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000442445.1_Silent_p.Y87Y|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATCTATAACAGTAGCTATACC	0.358																																																	0																																										SO:0001627	intron_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.139+103C>T	2.37:g.214012328G>A			Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	NULL	p.Y87	ENST00000434687.1	37	c.261	CCDS2395.1	2																																																																																			IKZF2	-	NULL		0.358	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	G	NM_016260		214012328	-1	no_errors	ENST00000442445	ensembl	human	putative	70_37	silent	SNP	1.000	A
IL17RC	84818	genome.wustl.edu	37	3	9959778	9959778	+	Intron	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:9959778G>T	ENST00000295981.3	+	3	711				RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000413608.1_Intron	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCATCCTGTGACAGTGCATG	0.587																																																	0													68.0	66.0	67.0					3																	9959778		2198	4283	6481	SO:0001627	intron_variant	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.493+19G>T	3.37:g.9959778G>T			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Nonstop_Mutation	SNP	NULL	p.*100L	ENST00000295981.3	37	c.299	CCDS2590.1	3																																																																																			IL17RC	-	NULL		0.587	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	G	NM_032732		9959778	+1	no_errors	ENST00000440502	ensembl	human	known	70_37	nonstop	SNP	0.001	T
INCENP	3619	genome.wustl.edu	37	11	61914360	61914360	+	Silent	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:61914360G>T	ENST00000394818.3	+	15	2392	c.2190G>T	c.(2188-2190)cgG>cgT	p.R730R	INCENP_ENST00000278849.4_Silent_p.R726R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	730					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						agcaggagcggcTCCAGGCCG	0.711																																																	0													9.0	11.0	11.0					11																	61914360		1946	3895	5841	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2190G>T	11.37:g.61914360G>T			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R730	ENST00000394818.3	37	c.2190	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.711	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914360	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.912	T
IQGAP1	8826	genome.wustl.edu	37	15	91017856	91017856	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:91017856G>T	ENST00000268182.5	+	23	2839	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q333H|IQGAP1_ENST00000560020.1_3'UTR	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	905					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTAACCAGCAGCTGGAGAATG	0.483																																																	0													112.0	99.0	104.0					15																	91017856		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2715G>T	15.37:g.91017856G>T	ENSP00000268182:p.Gln905His		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.Q905H	ENST00000268182.5	37	c.2715	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233468	0.58886	.	.	ENSG00000140575	ENST00000268182	T	0.02579	4.24	4.62	1.73	0.24493	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.00423	-1.1748	10	0.52906	T	0.07	-22.8024	8.9811	0.35966	0.3197:0.0:0.6803:0.0	.	905	P46940	IQGA1_HUMAN	H	905	ENSP00000268182:Q905H	ENSP00000268182:Q905H	Q	+	3	2	IQGAP1	88818860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.552000	0.53705	0.287000	0.22375	-0.229000	0.12294	CAG	IQGAP1	-	NULL		0.483	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		91017856	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	T
IRX6	79190	genome.wustl.edu	37	16	55362858	55362858	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:55362858G>A	ENST00000290552.7	+	5	2300	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	323					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GACCCTTCCGGATCGGAAGAA	0.642																																																	0													44.0	47.0	46.0					16																	55362858		2197	4299	6496	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.968G>A	16.37:g.55362858G>A	ENSP00000290552:p.Gly323Glu		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.G323E	ENST00000290552.7	37	c.968	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	G	0.333	-0.955244	0.02267	.	.	ENSG00000159387	ENST00000290552	D	0.88818	-2.43	5.27	2.19	0.27852	.	1.061130	0.07242	N	0.864416	T	0.78553	0.4301	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.27715	0.082	T	0.62267	-0.6890	10	0.02654	T	1	-6.4995	7.9319	0.29907	0.2744:0.0:0.7256:0.0	.	323	P78412	IRX6_HUMAN	E	323	ENSP00000290552:G323E	ENSP00000290552:G323E	G	+	2	0	IRX6	53920359	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.287000	0.18920	0.594000	0.29761	0.462000	0.41574	GGA	IRX6	-	NULL		0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55362858	+1	no_errors	ENST00000290552	ensembl	human	known	70_37	missense	SNP	0.000	A
KCNK9	51305	genome.wustl.edu	37	8	140630753	140630753	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:140630753C>T	ENST00000520439.1	-	2	936	c.873G>A	c.(871-873)ccG>ccA	p.P291P	KCNK9_ENST00000303015.1_Silent_p.P291P|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	291					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ACTGCAGGTCCGGGACGTCCG	0.667																																																	0													51.0	56.0	55.0					8																	140630753		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.873G>A	8.37:g.140630753C>T			Q2M290|Q540F2	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.P291	ENST00000520439.1	37	c.873	CCDS6377.1	8																																																																																			KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK		0.667	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	C	NM_016601		140630753	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	silent	SNP	0.066	T
KIAA0368	23392	genome.wustl.edu	37	9	114140944	114140944	+	Silent	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:114140944G>C	ENST00000338205.5	-	35	4089	c.3870C>G	c.(3868-3870)ctC>ctG	p.L1290L	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Silent_p.L1468L			Q5VYK3	ECM29_HUMAN	KIAA0368	1296					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAGCTGGAATGAGTTTTGGTG	0.468																																																	0													109.0	107.0	108.0					9																	114140944		1922	4122	6044	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3870C>G	9.37:g.114140944G>C			O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.L1468	ENST00000338205.5	37	c.4404		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold		0.468	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	G	NM_014686		114140944	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	silent	SNP	0.997	C
KIF1B	23095	genome.wustl.edu	37	1	10327472	10327472	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:10327472G>A	ENST00000377086.1	+	6	666	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	KIF1B_ENST00000377083.1_Missense_Mutation_p.R155Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R155Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R155Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.R155Q			O60333	KIF1B_HUMAN	kinesin family member 1B	155	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAAAGAGTACGAGATTTGCTG	0.428																																																	0													92.0	83.0	86.0					1																	10327472		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.464G>A	1.37:g.10327472G>A	ENSP00000366290:p.Arg155Gln		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R155Q	ENST00000377086.1	37	c.464		1	.	.	.	.	.	.	.	.	.	.	G	36	5.832035	0.97003	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.62	5.62	0.85841	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;P;D;D	0.97110	0.996;0.997;1.0;1.0;0.772;0.972;0.995	D	0.94305	0.7540	10	0.87932	D	0	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	155;155;155;155;155;155;155	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	Q	155	ENSP00000263934:R155Q;ENSP00000366297:R155Q;ENSP00000366290:R155Q;ENSP00000366287:R155Q;ENSP00000366284:R155Q	ENSP00000263934:R155Q	R	+	2	0	KIF1B	10250059	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.814000	0.96858	0.585000	0.79938	CGA	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.428	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10327472	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0907	22889	genome.wustl.edu	37	1	155891712	155891712	+	Intron	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:155891712G>A	ENST00000368321.3	-	9	978				KIAA0907_ENST00000368319.3_Intron|KIAA0907_ENST00000368320.3_Intron|KIAA0907_ENST00000482337.1_Intron|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907								RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCATGAACCTGAAAGAGAGGG	0.363																																																	0													58.0	57.0	58.0					1																	155891712		2203	4300	6503	SO:0001627	intron_variant	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.955-3C>T	1.37:g.155891712G>A			O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	RNA	SNP	-	NULL	ENST00000368321.3	37	NULL	CCDS30885.1	1																																																																																			KIAA0907	-	-		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	G	NM_014949		155891712	-1	no_errors	ENST00000483237	ensembl	human	known	70_37	rna	SNP	0.078	A
KIF7	374654	genome.wustl.edu	37	15	90189187	90189187	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr15:90189187G>A	ENST00000394412.3	-	8	1935	c.1859C>T	c.(1858-1860)tCa>tTa	p.S620L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	620	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGAAGCAGCTGAAGAGCCACT	0.612																																																	0													143.0	127.0	132.0					15																	90189187		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1859C>T	15.37:g.90189187G>A	ENSP00000377934:p.Ser620Leu		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S620L	ENST00000394412.3	37	c.1859	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	14.16	2.451516	0.43531	.	.	ENSG00000166813	ENST00000394412	T	0.70282	-0.47	3.86	3.86	0.44501	.	0.931944	0.08937	N	0.872223	T	0.64080	0.2566	L	0.44542	1.39	0.32672	N	0.516659	B;P	0.47762	0.0;0.9	B;B	0.40602	0.002;0.334	T	0.67133	-0.5747	10	0.40728	T	0.16	.	12.0068	0.53263	0.0:0.0:1.0:0.0	.	107;620	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	L	620	ENSP00000377934:S620L	ENSP00000377934:S620L	S	-	2	0	KIF7	87990191	0.992000	0.36948	0.844000	0.33320	0.865000	0.49528	3.198000	0.51035	2.099000	0.63709	0.558000	0.71614	TCA	KIF7	-	NULL		0.612	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90189187	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.949	A
LAMB3	3914	genome.wustl.edu	37	1	209823454	209823454	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:209823454C>T	ENST00000356082.4	-	3	172	c.38G>A	c.(37-39)gGc>gAc	p.G13D	LAMB3_ENST00000367030.3_Missense_Mutation_p.G13D|LAMB3_ENST00000391911.1_Missense_Mutation_p.G13D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	13					brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGCAGGAGGCCAGGCAGGGC	0.572																																																	0													33.0	31.0	31.0					1																	209823454		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.38G>A	1.37:g.209823454C>T	ENSP00000348384:p.Gly13Asp		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.G13D	ENST00000356082.4	37	c.38	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932155	0.52866	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	T;T;T;T	0.76578	1.26;1.26;1.26;-1.03	5.39	4.42	0.53409	.	0.926035	0.09261	N	0.826607	T	0.67618	0.2912	L	0.53249	1.67	0.23720	N	0.997026	B;B	0.32245	0.18;0.361	B;B	0.22601	0.04;0.036	T	0.58070	-0.7701	10	0.37606	T	0.19	.	3.9204	0.09240	0.1689:0.5819:0.1628:0.0864	.	13;13	B4DL55;Q13751	.;LAMB3_HUMAN	D	13	ENSP00000375778:G13D;ENSP00000348384:G13D;ENSP00000355997:G13D;ENSP00000388960:G13D	ENSP00000348384:G13D	G	-	2	0	LAMB3	207890077	0.005000	0.15991	0.993000	0.49108	0.976000	0.68499	0.028000	0.13644	2.534000	0.85438	0.650000	0.86243	GGC	LAMB3	-	NULL		0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209823454	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.629	T
LEP	3952	genome.wustl.edu	37	7	127894739	127894739	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:127894739G>A	ENST00000308868.4	+	3	478	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	143					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CTACTCCACAGAGGTGGTGGC	0.637																																																	0													28.0	29.0	29.0					7																	127894739		2203	4300	6503	SO:0001583	missense	3952				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.427G>A	7.37:g.127894739G>A	ENSP00000312652:p.Glu143Lys		O15158|Q56A88	Missense_Mutation	SNP	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	p.E143K	ENST00000308868.4	37	c.427	CCDS5800.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229528	0.79688	.	.	ENSG00000174697	ENST00000308868	T	0.75477	-0.94	5.76	4.88	0.63580	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.099589	0.44483	N	0.000453	D	0.84211	0.5422	M	0.76002	2.32	0.40067	D	0.975967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85654	0.1284	10	0.62326	D	0.03	-11.7332	10.6289	0.45523	0.0883:0.0:0.9117:0.0	.	143;143	A4D0Y8;P41159	.;LEP_HUMAN	K	143	ENSP00000312652:E143K	ENSP00000312652:E143K	E	+	1	0	LEP	127681975	1.000000	0.71417	0.887000	0.34795	0.806000	0.45545	5.093000	0.64517	1.431000	0.47355	0.655000	0.94253	GAG	LEP	-	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin		0.637	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEP	HGNC	protein_coding	OTTHUMT00000349174.1	G			127894739	+1	no_errors	ENST00000308868	ensembl	human	known	70_37	missense	SNP	0.951	A
LINC00207	388910	genome.wustl.edu	37	22	44965319	44965319	+	lincRNA	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:44965319G>T	ENST00000605505.1	+	0	88					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						gtgtgacatgggagtaagttt	0.443																																																	0													157.0	153.0	154.0					22																	44965319		1987	4157	6144			388910			BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44965319G>T				Nonsense_Mutation	SNP	NULL	p.G12*	ENST00000605505.1	37	c.34		22	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303861	0.60305	.	.	ENSG00000187012	ENST00000334566	.	.	.	0.537	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	12	.	ENSP00000334101:G12X	G	+	1	0	NCRNA00207	43343983	0.000000	0.05858	0.078000	0.20375	0.418000	0.31294	-0.666000	0.05280	0.540000	0.28808	0.313000	0.20887	GGA	LINC00207	-	NULL		0.443	LINC00207-003	KNOWN	basic	lincRNA	LINC00207	HGNC	lincRNA	OTTHUMT00000468439.1	G	NR_028409		44965319	+1	no_errors	ENST00000334566	ensembl	human	putative	70_37	nonsense	SNP	0.102	T
LOC407835	407835	genome.wustl.edu	37	7	128767638	128767638	+	RNA	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:128767638G>A	ENST00000471777.1	+	0	180																											CCAACGGAGCGGGCGGACCTA	0.517																																																	0																																												407835																															7.37:g.128767638G>A				RNA	SNP	-	NULL	ENST00000471777.1	37	NULL		7																																																																																			RP11-286H14.4	-	-		0.517	RP11-286H14.4-002	KNOWN	basic	processed_transcript	LOC407835	Clone_based_vega_gene	pseudogene	OTTHUMT00000350981.1	G			128767638	+1	no_errors	ENST00000471777	ensembl	human	known	70_37	rna	SNP	0.118	A
FAM230B	642633	genome.wustl.edu	37	22	21538766	21538766	+	RNA	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:21538766C>T	ENST00000451257.1	+	0	1752									family with sequence similarity 230, member B (non-protein coding)																		GCGCTTTATACGACATTGCTA	0.488																																																	0																																												642633			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538766C>T				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			KB-1183D5.11	-	-		0.488	FAM230B-002	KNOWN	basic	lincRNA	LOC642633	Clone_based_vega_gene	processed_transcript	OTTHUMT00000320063.1	C	NR_108107		21538766	+1	no_errors	ENST00000451257	ensembl	human	known	70_37	rna	SNP	0.178	T
CROCC2	728763	genome.wustl.edu	37	2	241922262	241922262	+	RNA	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:241922262G>A	ENST00000425110.1	-	0	1014																											CACCCCCAGTGTCTCCAGGTG	0.622																																																	0																																												728208																															2.37:g.241922262G>A				RNA	SNP	-	NULL	ENST00000425110.1	37	NULL		2																																																																																			AC104809.2	-	-		0.622	AC104809.2-001	KNOWN	basic|exp_conf	antisense	LOC728208	Clone_based_vega_gene	antisense	OTTHUMT00000324139.1	G			241922262	-1	no_errors	ENST00000425110	ensembl	human	known	70_37	rna	SNP	0.004	A
LRP1	4035	genome.wustl.edu	37	12	57598989	57598989	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:57598989C>T	ENST00000243077.3	+	73	11758	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3764	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAACATGTTCGATGACTGCG	0.662																																																	0													84.0	80.0	81.0					12																	57598989		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11292C>T	12.37:g.57598989C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F3764	ENST00000243077.3	37	c.11292	CCDS8932.1	12																																																																																			LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt		0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57598989	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	0.765	T
LRP1	4035	genome.wustl.edu	37	12	57604559	57604559	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:57604559G>A	ENST00000243077.3	+	83	13279	c.12813G>A	c.(12811-12813)gtG>gtA	p.V4271V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4271	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAGCAGGTGTGTGCGGGCT	0.667																																																	0													61.0	63.0	62.0					12																	57604559		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12813G>A	12.37:g.57604559G>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V4271	ENST00000243077.3	37	c.12813	CCDS8932.1	12																																																																																			LRP1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57604559	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	1.000	A
LTN1	26046	genome.wustl.edu	37	21	30339206	30339206	+	Frame_Shift_Del	DEL	T	T	-	rs560176639	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr21:30339206delT	ENST00000361371.5	-	10	1686	c.1607delA	c.(1606-1608)aatfs	p.N536fs	LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACCTTACCATTTTTTTTTTT	0.378													|||unknown(HR)	455	0.0908546	0.1248	0.0461	5008	,	,		18798	0.0714		0.0586	False		,,,				2504	0.1299																1	Deletion - Frameshift(1)	ovary(1)											50.0	47.0	48.0					21																	30339206		2203	4300	6503	SO:0001589	frameshift_variant	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1607delA	21.37:g.30339206delT	ENSP00000354977:p.Asn536fs		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.N536fs	ENST00000361371.5	37	c.1607		21																																																																																			LTN1	-	superfamily_ARM-type_fold		0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	T	NM_015565		30339206	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
MC1R	4157	genome.wustl.edu	37	16	89981102	89981102	+	5'UTR	SNP	T	T	C	rs200207579		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:89981102T>C	ENST00000555427.1	+	0	1277				RP11-566K11.7_ENST00000570217.1_RNA			Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		tgtgtgtgtgtgcctgtgtgt	0.532									Melanoma, Familial Clustering of																																								0																																										SO:0001623	5_prime_UTR_variant	4157	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555427.1:c.-1027T>C	16.37:g.89981102T>C			Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	SNP	-	NULL	ENST00000555427.1	37	NULL		16																																																																																			MC1R	-	-		0.532	MC1R-002	PUTATIVE	basic	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412001.2	T	NM_002386		89981102	+1	no_errors	ENST00000539976	ensembl	human	known	70_37	rna	SNP	0.654	C
MGAM	8972	genome.wustl.edu	37	7	141764242	141764242	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:141764242G>C	ENST00000549489.2	+	37	4499	c.4404G>C	c.(4402-4404)caG>caC	p.Q1468H	MGAM_ENST00000475668.2_Missense_Mutation_p.Q1468H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1468	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGTCAGCAGATCCTCCCAG	0.577																																																	0													33.0	36.0	35.0					7																	141764242		1990	4177	6167	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4404G>C	7.37:g.141764242G>C	ENSP00000447378:p.Gln1468His		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Q1468H	ENST00000549489.2	37	c.4404	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972722	0.34848	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91237	-2.81	4.22	2.3	0.28687	Glycoside hydrolase, superfamily (1);	.	.	.	.	T	0.79969	0.4538	N	0.17564	0.495	0.33452	D	0.583839	P	0.34629	0.46	B	0.34536	0.185	T	0.77606	-0.2525	9	0.33141	T	0.24	.	5.5561	0.17117	0.1892:0.1718:0.6389:0.0	.	1468	O43451	MGA_HUMAN	H	1468;1468;1345	ENSP00000447378:Q1468H	ENSP00000316431:Q1345H	Q	+	3	2	MGAM	141410711	0.996000	0.38824	0.991000	0.47740	0.307000	0.27823	1.803000	0.38863	0.712000	0.32039	0.306000	0.20318	CAG	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.577	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141764242	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.970	C
MGRN1	23295	genome.wustl.edu	37	16	4730186	4730186	+	Intron	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:4730186G>A	ENST00000399577.5	+	12	1224				MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000262370.7_Intron|MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000415496.1_Intron	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TTCCGCCCCAGGCTAGTGTCT	0.557																																																	0																																										SO:0001627	intron_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1131+88G>A	16.37:g.4730186G>A			A4URL3|A4URL4|Q86W76	RNA	SNP	-	NULL	ENST00000399577.5	37	NULL	CCDS45402.1	16																																																																																			MGRN1	-	-		0.557	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	G			4730186	+1	no_errors	ENST00000592256	ensembl	human	known	70_37	rna	SNP	0.012	A
MIER1	57708	genome.wustl.edu	37	1	67423820	67423820	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:67423820G>A	ENST00000355356.3	+	4	408	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	MIER1_ENST00000371016.1_Missense_Mutation_p.E104K|MIER1_ENST00000355977.6_Missense_Mutation_p.E24K|MIER1_ENST00000371014.1_Missense_Mutation_p.E140K|MIER1_ENST00000357692.2_Missense_Mutation_p.E104K|MIER1_ENST00000371018.3_Missense_Mutation_p.E104K|MIER1_ENST00000401042.3_Missense_Mutation_p.E87K|MIER1_ENST00000401041.1_Missense_Mutation_p.E140K|MIER1_ENST00000479067.1_3'UTR	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	87	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						agaagatgaggaagaggaaga	0.378																																																	0													97.0	99.0	98.0					1																	67423820		2031	4192	6223	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.259G>A	1.37:g.67423820G>A	ENSP00000347514:p.Glu87Lys		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E140K	ENST00000355356.3	37	c.418	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289161	0.59976	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.46063	0.88;0.99;0.88;0.88;0.88;0.88;0.88;0.88	5.42	5.42	0.78866	.	0.842410	0.10969	N	0.614051	T	0.26810	0.0656	L	0.29908	0.895	0.52099	D	0.999949	B;P;B;B;B;P;P;B;B	0.48694	0.417;0.682;0.275;0.288;0.043;0.914;0.911;0.049;0.397	B;B;B;B;B;B;P;B;B	0.45276	0.098;0.188;0.128;0.109;0.025;0.359;0.475;0.065;0.194	T	0.12268	-1.0554	10	0.18276	T	0.48	-10.3787	19.1967	0.93691	0.0:0.0:1.0:0.0	.	104;104;87;87;24;111;104;140;140	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	108;104;24;104;140;104;140;87;87	ENSP00000360057:E104K;ENSP00000348253:E24K;ENSP00000350321:E104K;ENSP00000383820:E140K;ENSP00000360055:E104K;ENSP00000360053:E140K;ENSP00000383821:E87K;ENSP00000347514:E87K	ENSP00000347514:E87K	E	+	1	0	MIER1	67196408	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.697000	0.91307	2.702000	0.92279	0.591000	0.81541	GAA	MIER1	-	NULL		0.378	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67423820	+1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A
MKL2	57496	genome.wustl.edu	37	16	14311069	14311069	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:14311069C>G	ENST00000341243.5	+	5	406	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	MKL2_ENST00000571589.1_Missense_Mutation_p.Q147E|MKL2_ENST00000574045.1_Missense_Mutation_p.Q147E|MKL2_ENST00000573051.1_Missense_Mutation_p.Q96E|MKL2_ENST00000318282.5_Missense_Mutation_p.Q147E|MKL2_ENST00000572567.1_Missense_Mutation_p.Q136E			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	136					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAGATTGCTCAAAGACCTGG	0.403																																																	0													121.0	131.0	128.0					16																	14311069		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.406C>G	16.37:g.14311069C>G	ENSP00000345841:p.Gln136Glu		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.Q136E	ENST00000341243.5	37	c.406		16	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747784	0.89663	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99836	-7.05;-7.05	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;P	0.63046	0.971;0.992;0.992;0.955	D;D;D;P	0.70716	0.921;0.97;0.959;0.862	D	0.97490	1.0053	10	0.59425	D	0.04	-16.0211	19.2924	0.94105	0.0:1.0:0.0:0.0	.	96;147;136;147	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	E	147;136;136	ENSP00000339086:Q147E;ENSP00000345841:Q136E	ENSP00000339086:Q147E	Q	+	1	0	MKL2	14218570	1.000000	0.71417	0.950000	0.38849	0.996000	0.88848	7.729000	0.84864	2.878000	0.98634	0.650000	0.86243	CAA	MKL2	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat		0.403	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14311069	+1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	1.000	G
MLH3	27030	genome.wustl.edu	37	14	75505074	75505074	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:75505074C>T	ENST00000556740.1	-	5	3647	c.3612G>A	c.(3610-3612)atG>atA	p.M1204I	MLH3_ENST00000355774.2_Missense_Mutation_p.M1204I|MLH3_ENST00000380968.2_Missense_Mutation_p.M150I|MLH3_ENST00000544985.1_Missense_Mutation_p.M164I|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.M1204I|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1204					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCTTAGTGCTCATCAAACAGG	0.353								Mismatch excision repair (MMR)																																									0													129.0	120.0	123.0					14																	75505074		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3612G>A	14.37:g.75505074C>T	ENSP00000452316:p.Met1204Ile		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.M1204I	ENST00000556740.1	37	c.3612	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883637	0.51908	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985	T;T;T;T;T	0.78816	-1.21;0.79;-1.16;-1.21;0.7	5.58	5.58	0.84498	MutL, C-terminal, dimerisation (1);	0.083862	0.85682	D	0.000000	T	0.68247	0.2980	N	0.25144	0.715	0.32614	N	0.524283	P;B	0.34615	0.459;0.21	B;B	0.41135	0.348;0.137	T	0.72232	-0.4353	10	0.25751	T	0.34	-15.9209	11.4654	0.50235	0.1248:0.6847:0.1905:0.0	.	1204;1204	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	I	1204;150;1204;1204;164	ENSP00000348020:M1204I;ENSP00000370355:M150I;ENSP00000238662:M1204I;ENSP00000452316:M1204I;ENSP00000441371:M164I	ENSP00000238662:M1204I	M	-	3	0	MLH3	74574827	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.822000	0.39052	2.640000	0.89533	0.561000	0.74099	ATG	MLH3	-	smart_MutL_C		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	C	NM_014381		75505074	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49431567	49431567	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:49431567delG	ENST00000301067.7	-	34	9571	c.9572delC	c.(9571-9573)ccafs	p.P3192fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3192					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGAGCTGGTGGTCCTCCCGT	0.622																																																	0													23.0	25.0	24.0					12																	49431567		1990	4152	6142	SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9572delC	12.37:g.49431567delG	ENSP00000301067:p.Pro3192fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,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_RING	p.P3191fs	ENST00000301067.7	37	c.9572	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49431567	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MUC6	4588	genome.wustl.edu	37	11	1016049	1016049	+	Missense_Mutation	SNP	G	G	A	rs199716176		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:1016049G>A	ENST00000421673.2	-	31	6802	c.6752C>T	c.(6751-6753)aCg>aTg	p.T2251M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2251	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCTGGGCGTGGACGGAAA	0.617																																																	0													101.0	121.0	114.0					11																	1016049		2185	4266	6451	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6752C>T	11.37:g.1016049G>A	ENSP00000406861:p.Thr2251Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T2251M	ENST00000421673.2	37	c.6752	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683565	0.47991	.	.	ENSG00000184956	ENST00000421673	T	0.28666	1.6	3.08	3.08	0.35506	.	.	.	.	.	T	0.36717	0.0977	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.11767	-1.0574	9	0.56958	D	0.05	.	10.3032	0.43665	0.0:0.0:1.0:0.0	.	2251	Q6W4X9	MUC6_HUMAN	M	2251	ENSP00000406861:T2251M	ENSP00000406861:T2251M	T	-	2	0	MUC6	1006049	0.009000	0.17119	0.003000	0.11579	0.040000	0.13550	1.550000	0.36223	1.650000	0.50662	0.448000	0.29417	ACG	MUC6	-	NULL		0.617	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1016049	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.057	A
MUC6	4588	genome.wustl.edu	37	11	1019337	1019337	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:1019337G>A	ENST00000421673.2	-	30	4018	c.3968C>T	c.(3967-3969)tCc>tTc	p.S1323F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1323	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGTTGTGGACTGAGCTGT	0.627																																																	0													208.0	216.0	213.0					11																	1019337		2198	4284	6482	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3968C>T	11.37:g.1019337G>A	ENSP00000406861:p.Ser1323Phe		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S1323F	ENST00000421673.2	37	c.3968	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307004	0.23821	.	.	ENSG00000184956	ENST00000421673	T	0.19806	2.12	2.91	0.847	0.18961	.	.	.	.	.	T	0.08268	0.0206	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40869	-0.9540	9	0.10111	T	0.7	.	4.0568	0.09821	0.14:0.0:0.6289:0.2311	.	1323	Q6W4X9	MUC6_HUMAN	F	1323	ENSP00000406861:S1323F	ENSP00000406861:S1323F	S	-	2	0	MUC6	1009337	0.706000	0.27856	0.005000	0.12908	0.141000	0.21300	1.230000	0.32612	0.061000	0.16311	0.305000	0.20034	TCC	MUC6	-	NULL		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1019337	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.038	A
MYBPC2	4606	genome.wustl.edu	37	19	50958397	50958397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:50958397C>T	ENST00000357701.5	+	19	2098	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	683	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGGGCTCTCAGCGCTGGAT	0.567																																																	0													62.0	65.0	64.0					19																	50958397		2024	4192	6216	SO:0001587	stop_gained	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2047C>T	19.37:g.50958397C>T	ENSP00000350332:p.Gln683*		A1L4G9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q683*	ENST00000357701.5	37	c.2047	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	38	7.000794	0.97994	.	.	ENSG00000086967	ENST00000357701	.	.	.	4.18	4.18	0.49190	.	0.491076	0.13584	U	0.377133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.5652	0.50800	0.1796:0.8204:0.0:0.0	.	.	.	.	X	683	.	ENSP00000350332:Q683X	Q	+	1	0	MYBPC2	55650209	0.000000	0.05858	0.989000	0.46669	0.981000	0.71138	0.040000	0.13905	2.069000	0.61940	0.461000	0.40582	CAG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50958397	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	nonsense	SNP	0.913	T
MYH1	4619	genome.wustl.edu	37	17	10398362	10398362	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:10398362C>T	ENST00000226207.5	-	37	5446	c.5352G>A	c.(5350-5352)gaG>gaA	p.E1784E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1784					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						TCTTCATCCGCTCCAGATGGG	0.537																																																	0													156.0	150.0	152.0					17																	10398362		2203	4300	6503	SO:0001819	synonymous_variant	4619				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.5352G>A	17.37:g.10398362C>T			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,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.E1784	ENST00000226207.5	37	c.5352	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail		0.537	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10398362	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	silent	SNP	1.000	T
MYH14	79784	genome.wustl.edu	37	19	50792782	50792782	+	Silent	SNP	A	A	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:50792782A>T	ENST00000596571.1	+	32	4719	c.4719A>T	c.(4717-4719)acA>acT	p.T1573T	MYH14_ENST00000598205.1_Silent_p.T1581T|MYH14_ENST00000262269.8_Silent_p.T1614T|MYH14_ENST00000601313.1_Silent_p.T1614T|MYH14_ENST00000376970.2_Silent_p.T1606T|MYH14_ENST00000440075.2_Silent_p.T1614T|MYH14_ENST00000425460.1_Silent_p.T1581T			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1573					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ATGAGCTGACAGCGGCCGAGG	0.607																																																	0													42.0	52.0	48.0					19																	50792782		2194	4289	6483	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4719A>T	19.37:g.50792782A>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1614	ENST00000596571.1	37	c.4842	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_tail,superfamily_Prefoldin		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	A	NM_024729		50792782	+1	no_errors	ENST00000262269	ensembl	human	known	70_37	silent	SNP	0.993	T
NAV3	89795	genome.wustl.edu	37	12	78553032	78553032	+	Missense_Mutation	SNP	G	G	A	rs372156228		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:78553032G>A	ENST00000397909.2	+	23	5008	c.4835G>A	c.(4834-4836)cGa>cAa	p.R1612Q	NAV3_ENST00000228327.6_Missense_Mutation_p.R1612Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R1435Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R1612Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1612						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGACTGGCCGATTGCAAAGT	0.383										HNSCC(70;0.22)																																							0								G	GLN/ARG	0,3710		0,0,1855	118.0	109.0	112.0		4835	4.5	1.0	12		112	1,8199		0,1,4099	no	missense	NAV3	NM_014903.4	43	0,1,5954	AA,AG,GG		0.0122,0.0,0.0084	benign	1612/2364	78553032	1,11909	1855	4100	5955	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4835G>A	12.37:g.78553032G>A	ENSP00000381007:p.Arg1612Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1612Q	ENST00000397909.2	37	c.4835		12	.	.	.	.	.	.	.	.	.	.	G	31	5.071238	0.93950	0.0	1.22E-4	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.44	4.54	0.55810	.	0.000000	0.35207	U	0.003372	D	0.95608	0.8572	M	0.75615	2.305	0.80722	D	1	D;B;D;B	0.67145	0.996;0.168;0.996;0.168	P;B;P;B	0.60345	0.873;0.016;0.649;0.029	D	0.95932	0.8939	10	0.87932	D	0	-8.5639	14.3696	0.66830	0.0716:0.0:0.9284:0.0	.	1612;1435;1612;1612	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Q	1612;1612;1612;1435;233;241	ENSP00000446132:R1612Q;ENSP00000381007:R1612Q;ENSP00000228327:R1612Q;ENSP00000266692:R1435Q;ENSP00000448303:R241Q	ENSP00000228327:R1612Q	R	+	2	0	NAV3	77077163	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.063000	0.93927	1.416000	0.47057	0.655000	0.94253	CGA	NAV3	-	NULL		0.383	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78553032	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A
NFXL1	152518	genome.wustl.edu	37	4	47853888	47853888	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:47853888C>T	ENST00000507489.1	-	21	2669	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	NFXL1_ENST00000381538.3_Silent_p.K831K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	831						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGCTTTCCGCTTCATTTCCT	0.338																																																	0													172.0	153.0	159.0					4																	47853888		2203	4300	6503	SO:0001819	synonymous_variant	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2493G>A	4.37:g.47853888C>T			B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.K831	ENST00000507489.1	37	c.2493	CCDS3478.2	4																																																																																			NFXL1	-	NULL		0.338	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	C	NM_152995		47853888	-1	no_errors	ENST00000381538	ensembl	human	known	70_37	silent	SNP	1.000	T
NHS	4810	genome.wustl.edu	37	X	17743568	17743568	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:17743568G>C	ENST00000380060.3	+	6	1617	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	NHS_ENST00000398097.3_Missense_Mutation_p.E271Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	448					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGGGACTCTGAGTGCCAAAC	0.502																																																	0													215.0	197.0	203.0					X																	17743568		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1279G>C	X.37:g.17743568G>C	ENSP00000369400:p.Glu427Gln		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E427Q	ENST00000380060.3	37	c.1279	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313860	0.60414	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.47528	0.84;0.86	5.88	5.88	0.94601	.	0.094038	0.64402	D	0.000001	T	0.66489	0.2794	L	0.60455	1.87	0.52501	D	0.999956	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.961;0.961;0.961;0.997	T	0.61347	-0.7081	10	0.31617	T	0.26	-11.7346	19.1532	0.93499	0.0:0.0:1.0:0.0	.	448;269;271;427	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	427;271;269	ENSP00000369400:E427Q;ENSP00000381170:E271Q	ENSP00000369397:E269Q	E	+	1	0	NHS	17653489	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	GAG	NHS	-	NULL		0.502	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17743568	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	C
NLGN1	22871	genome.wustl.edu	37	3	173998301	173998301	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr3:173998301G>A	ENST00000457714.1	+	7	2109	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	NLGN1_ENST00000545397.1_Silent_p.T560T|NLGN1_ENST00000361589.4_Silent_p.T560T|NLGN1_ENST00000401917.3_Silent_p.T600T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	577					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.T560T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTCAAGACACGAAATTCATTC	0.338																																																	1	Substitution - coding silent(1)	large_intestine(1)											82.0	77.0	78.0					3																	173998301		2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1680G>A	3.37:g.173998301G>A			Q9UPT2	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T600	ENST00000457714.1	37	c.1800	CCDS3222.1	3																																																																																			NLGN1	-	pfam_CarbesteraseB,prints_Neuroligin		0.338	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	G	NM_014932		173998301	+1	no_errors	ENST00000401917	ensembl	human	known	70_37	silent	SNP	0.999	A
NLRC5	84166	genome.wustl.edu	37	16	57070034	57070034	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:57070034G>A	ENST00000262510.6	+	14	2875	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	NLRC5_ENST00000436936.1_Missense_Mutation_p.D884N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D884N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D884N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	884					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.D884N(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGCTGGAAGATGAAGGCTG	0.607																																																	1	Substitution - Missense(1)	ovary(1)											54.0	50.0	51.0					16																	57070034		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2650G>A	16.37:g.57070034G>A	ENSP00000262510:p.Asp884Asn		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.D884N	ENST00000262510.6	37	c.2650	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273351|4.273351	0.80580|0.80580	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.70399|.	0.36;0.36;0.36;0.36;0.36;-0.48|.	5.08|5.08	4.12|4.12	0.48240|0.48240	.|.	0.222353|.	0.22757|.	N|.	0.056012|.	T|T	0.62417|0.62417	0.2426|0.2426	M|M	0.83953|0.83953	2.67|2.67	0.25387|0.25387	N|N	0.98857|0.98857	D;D;P;D|.	0.89917|.	1.0;0.998;0.918;0.998|.	D;D;P;D|.	0.81914|.	0.995;0.985;0.896;0.982|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.54805|.	T|.	0.06|.	.|.	11.1888|11.1888	0.48673|0.48673	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	884;884;884;884|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|K	884;884;884;358;884;391;183|636	ENSP00000262510:D884N;ENSP00000308886:D884N;ENSP00000389739:D884N;ENSP00000441727:D884N;ENSP00000441597:D391N;ENSP00000440153:D183N|.	ENSP00000262510:D884N|.	D|R	+|+	1|2	0|0	NLRC5|NLRC5	55627535|55627535	1.000000|1.000000	0.71417|0.71417	0.586000|0.586000	0.28679|0.28679	0.959000|0.959000	0.62525|0.62525	3.160000|3.160000	0.50739|0.50739	1.375000|1.375000	0.46248|0.46248	0.561000|0.561000	0.74099|0.74099	GAT|AGA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.607	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57070034	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.988	A
NOC2L	26155	genome.wustl.edu	37	1	891554	891554	+	Silent	SNP	C	C	T	rs141993612		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:891554C>T	ENST00000327044.6	-	5	577	c.528G>A	c.(526-528)gcG>gcA	p.A176A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	176					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGCTCGGAACGCCTGTACCA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17603	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	86.0	82.0	83.0		528	-10.3	0.8	1	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	NOC2L	NM_015658.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		176/750	891554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.528G>A	1.37:g.891554C>T			Q5SVA3|Q9BTN6	Silent	SNP	pfam_UPF0120,superfamily_ARM-type_fold	p.A176	ENST00000327044.6	37	c.528	CCDS3.1	1																																																																																			NOC2L	-	NULL		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	C	NM_015658		891554	-1	no_errors	ENST00000327044	ensembl	human	known	70_37	silent	SNP	0.043	T
NRAP	4892	genome.wustl.edu	37	10	115405665	115405665	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:115405665G>A	ENST00000359988.3	-	11	1273	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NRAP_ENST00000369358.4_Silent_p.G343G|NRAP_ENST00000360478.3_Silent_p.G343G|NRAP_ENST00000369360.3_Silent_p.G343G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGTGCAGCGCCTTTCATCT	0.458																																																	0													193.0	173.0	180.0					10																	115405665		2203	4300	6503	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1029C>T	10.37:g.115405665G>A				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.G343	ENST00000359988.3	37	c.1029	CCDS7579.1	10																																																																																			NRAP	-	pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115405665	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.003	A
NRP2	8828	genome.wustl.edu	37	2	206659477	206659477	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:206659477G>C	ENST00000540841.1	+	16	3216	c.2425G>C	c.(2425-2427)Gat>Cat	p.D809H	NRP2_ENST00000357785.5_Splice_Site|NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000412873.2_Splice_Site|NRP2_ENST00000540178.1_Splice_Site			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATGTATCGCAGATGAATACGA	0.527																																																	0													76.0	75.0	75.0					2																	206659477		2203	4300	6503	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000540841.1:c.2425G>C	2.37:g.206659477G>C	ENSP00000439261:p.Asp809His		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	-	e17-1	ENST00000540841.1	37	c.2492-1		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.708|7.708	0.694620|0.694620	0.15039|0.15039	.|.	.|.	ENSG00000118257|ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785;ENST00000412873|ENST00000540841	.|D	.|0.88046	.|-2.33	5.93|5.93	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91358	.|0.7274	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91805	.|0.5455	.|6	.|0.59425	.|D	.|0.04	.|.	14.0871|14.0871	0.64964|0.64964	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	.|.	.|.	.|.	.|H	-1|809	.|ENSP00000439261:D809H	.|ENSP00000439261:D809H	.|D	+|+	.|1	.|0	NRP2|NRP2	206367722|206367722	1.000000|1.000000	0.71417|0.71417	0.705000|0.705000	0.30386|0.30386	0.029000|0.029000	0.11900|0.11900	6.118000|6.118000	0.71583|0.71583	1.518000|1.518000	0.48934|0.48934	0.655000|0.655000	0.94253|0.94253	.|GAT	NRP2	-	-		0.527	NRP2-203	KNOWN	basic	protein_coding	NRP2	HGNC	protein_coding		G			206659477	+1	no_errors	ENST00000360409	ensembl	human	known	70_37	splice_site	SNP	0.999	C
NXPH1	30010	genome.wustl.edu	37	7	8475386	8475386	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:8475386A>G	ENST00000405863.1	+	2	954	c.43A>G	c.(43-45)Acc>Gcc	p.T15A	NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	15						extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCTGCAGCCCACCGTCTACTT	0.572																																																	0													116.0	125.0	122.0					7																	8475386		2016	4183	6199	SO:0001583	missense	30010			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.43A>G	7.37:g.8475386A>G	ENSP00000384551:p.Thr15Ala		Q8NB31	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.T15A	ENST00000405863.1	37	c.43	CCDS47540.1	7	.	.	.	.	.	.	.	.	.	.	A	7.233	0.599680	0.13939	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.34424	0.0897	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	8	0.11485	T	0.65	2.2645	13.296	0.60296	1.0:0.0:0.0:0.0	.	15	P58417	NXPH1_HUMAN	A	15	.	ENSP00000384551:T15A	T	+	1	0	NXPH1	8441911	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.633000	0.54295	1.998000	0.58463	0.460000	0.39030	ACC	NXPH1	-	pirsf_Neurexophilin		0.572	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH1	HGNC	protein_coding	OTTHUMT00000324591.1	A	NM_152745		8475386	+1	no_errors	ENST00000405863	ensembl	human	known	70_37	missense	SNP	1.000	G
OPCML	4978	genome.wustl.edu	37	11	132307162	132307162	+	Silent	SNP	G	G	A	rs143650226		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552																																																	0								G	,	0,4402		0,0,2201	122.0	105.0	111.0		597,618	-6.0	0.6	11	dbSNP_134	111	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	199/339,206/346	132307162	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.618C>T	11.37:g.132307162G>A			B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N206	ENST00000331898.7	37	c.618	CCDS8492.1	11																																																																																			OPCML	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.552	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	G	NM_001012393		132307162	-1	no_errors	ENST00000541867	ensembl	human	known	70_37	silent	SNP	0.898	A
OR10H5	284433	genome.wustl.edu	37	19	15905236	15905236	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:15905236C>T	ENST00000308940.8	+	1	476	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	126						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(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACGTGGCCATCTGCCACCCCC	0.627																																																	0													131.0	109.0	117.0					19																	15905236		2203	4300	6503	SO:0001819	synonymous_variant	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.378C>T	19.37:g.15905236C>T			Q6IFJ0|Q96R60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I126	ENST00000308940.8	37	c.378	CCDS32940.1	19																																																																																			OR10H5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	C			15905236	+1	no_errors	ENST00000308940	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDHB11	56125	genome.wustl.edu	37	5	140581381	140581381	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:140581381G>A	ENST00000354757.3	+	1	2034	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	PCDHB11_ENST00000536699.1_Silent_p.P313P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	678					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.687																																																	0													60.0	64.0	63.0					5																	140581381		2184	4282	6466	SO:0001819	synonymous_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2034G>A	5.37:g.140581381G>A			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P678	ENST00000354757.3	37	c.2034	CCDS4253.1	5																																																																																			PCDHB11	-	NULL		0.687	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140581381	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	silent	SNP	0.000	A
PDE6B	5158	genome.wustl.edu	37	4	654372	654372	+	Silent	SNP	C	C	T	rs145273613		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:654372C>T	ENST00000496514.1	+	12	1605	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.G528G|PDE6B_ENST00000429163.2_Silent_p.G249G			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	528					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACGAGCTGGGCGTGGTCCGAA	0.592													.|||	1	0.000199681	0.0	0.0	5008	,	,		20137	0.001		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)												0								C	,,	1,4405		0,1,2202	74.0	64.0	67.0		1584,1584,747	-4.2	1.0	4	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	528/855,528/854,249/576	654372	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1584C>T	4.37:g.654372C>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G528	ENST00000496514.1	37	c.1584	CCDS33932.1	4																																																																																			PDE6B	-	NULL		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	C	NM_000283		654372	+1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.849	T
PDK3	5165	genome.wustl.edu	37	X	24552121	24552121	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:24552121G>A	ENST00000379162.4	+	11	1388	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PDK3_ENST00000441463.2_Missense_Mutation_p.E385K	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	385					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GACCACGCCTGAAGCCGATGA	0.408																																																	0													74.0	63.0	67.0					X																	24552121		2203	4300	6503	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1153G>A	X.37:g.24552121G>A	ENSP00000368460:p.Glu385Lys		B4DXG6	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E385K	ENST00000379162.4	37	c.1153	CCDS14212.1	X	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883870	0.72410	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.43294	0.95;0.95	5.35	5.35	0.76521	.	0.146358	0.64402	D	0.000010	T	0.46521	0.1397	M	0.72118	2.19	0.58432	D	0.999999	B;B	0.13145	0.007;0.005	B;B	0.14023	0.01;0.01	T	0.38993	-0.9635	10	0.38643	T	0.18	-20.3676	18.1546	0.89687	0.0:0.0:1.0:0.0	.	385;385	B4DXG6;Q15120	.;PDK3_HUMAN	K	385	ENSP00000368460:E385K;ENSP00000387536:E385K	ENSP00000368460:E385K	E	+	1	0	PDK3	24462042	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.263000	0.95617	2.480000	0.83734	0.600000	0.82982	GAA	PDK3	-	NULL		0.408	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	G	NM_005391		24552121	+1	no_errors	ENST00000441463	ensembl	human	known	70_37	missense	SNP	1.000	A
PDZK1	5174	genome.wustl.edu	37	1	145763451	145763454	+	Intron	DEL	GAAA	GAAA	-			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	GAAA	GAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:145763451_145763454delGAAA	ENST00000344770.2	+	9	1579				PDZK1_ENST00000465595.1_3'UTR|PDZK1_ENST00000451928.2_Intron|PDZK1_ENST00000417171.1_Intron	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1						carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGCATGCTGTGAAAGAAAGAAATT	0.377																																																	0																																										SO:0001627	intron_variant	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1507-116GAAA>-	1.37:g.145763459_145763462delGAAA			B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	RNA	DEL	-	NULL	ENST00000344770.2	37	NULL	CCDS924.1	1																																																																																			PDZK1	-	-		0.377	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	GAAA	NM_002614		145763454	+1	no_errors	ENST00000465595	ensembl	human	known	70_37	rna	DEL	0.000:0.001:0.002:0.001	-
PIBF1	10464	genome.wustl.edu	37	13	73366588	73366588	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:73366588G>A	ENST00000326291.6	+	3	594	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	86						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TACGAAGATTGAAGAATTGGA	0.308																																																	0													51.0	56.0	54.0					13																	73366588		2201	4297	6498	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.256G>A	13.37:g.73366588G>A	ENSP00000317144:p.Glu86Lys		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E86K	ENST00000326291.6	37	c.256	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882315	0.91740	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06768	3.26	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.00563	-1.1669	10	0.32370	T	0.25	-21.1007	19.6271	0.95682	0.0:0.0:1.0:0.0	.	86;86	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	86	ENSP00000317144:E86K	ENSP00000317144:E86K	E	+	1	0	PIBF1	72264589	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.096000	0.94182	2.645000	0.89757	0.591000	0.81541	GAA	PIBF1	-	NULL		0.308	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73366588	+1	no_errors	ENST00000326291	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	144997455	144997455	+	Silent	SNP	C	C	T	rs559736151		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:144997455C>T	ENST00000322810.4	-	31	7222	c.7053G>A	c.(7051-7053)gcG>gcA	p.A2351A	PLEC_ENST00000436759.2_Silent_p.A2241A|PLEC_ENST00000356346.3_Silent_p.A2200A|PLEC_ENST00000398774.2_Silent_p.A2182A|PLEC_ENST00000354958.2_Silent_p.A2192A|PLEC_ENST00000345136.3_Silent_p.A2214A|PLEC_ENST00000527096.1_Silent_p.A2237A|PLEC_ENST00000357649.2_Silent_p.A2218A|PLEC_ENST00000354589.3_Silent_p.A2214A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTGGCCTCCGCCTTCAGCC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13686	0.0		0.0	False		,,,				2504	0.0																0													14.0	15.0	15.0					8																	144997455		2118	4221	6339	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7053G>A	8.37:g.144997455C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A2351	ENST00000322810.4	37	c.7053	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997455	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.007	T
POLK	51426	genome.wustl.edu	37	5	74848348	74848348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr5:74848348C>T	ENST00000241436.4	+	3	359	c.187C>T	c.(187-189)Cga>Tga	p.R63*	POLK_ENST00000515295.1_Nonsense_Mutation_p.R63*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Nonsense_Mutation_p.R63*|POLK_ENST00000380481.3_5'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.R63*|POLK_ENST00000508526.1_Nonsense_Mutation_p.R63*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	63					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTCAACCAACGAATTGAAAA	0.343								DNA polymerases (catalytic subunits)																																									0													89.0	88.0	88.0					5																	74848348		2203	4300	6503	SO:0001587	stop_gained	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.187C>T	5.37:g.74848348C>T	ENSP00000241436:p.Arg63*		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.R63*	ENST00000241436.4	37	c.187	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.014049	0.97200	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526	.	.	.	6.07	4.26	0.50523	.	0.056486	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2262	15.2333	0.73407	0.255:0.745:0.0:0.0	.	.	.	.	X	63	.	ENSP00000241436:R63X	R	+	1	2	POLK	74884104	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	1.213000	0.32407	0.863000	0.35553	0.650000	0.86243	CGA	POLK	-	NULL		0.343	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	C	NM_016218		74848348	+1	no_errors	ENST00000241436	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PSMD11	5717	genome.wustl.edu	37	17	30771577	30771577	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:30771577C>T	ENST00000261712.3	+	1	299	c.36C>T	c.(34-36)gcC>gcT	p.A12A	PSMD11_ENST00000457654.2_Silent_p.A12A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCCAGAGAGCCCAGTCTCTAC	0.716																																					Ovarian(130;1038 1716 9294 11987 19279)												0													26.0	25.0	25.0					17																	30771577		2200	4298	6498	SO:0001819	synonymous_variant	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.36C>T	17.37:g.30771577C>T			A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.A12	ENST00000261712.3	37	c.36	CCDS11272.1	17																																																																																			PSMD11	-	NULL		0.716	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD11	HGNC	protein_coding	OTTHUMT00000256252.2	C	NM_002815		30771577	+1	no_errors	ENST00000261712	ensembl	human	known	70_37	silent	SNP	1.000	T
RAB2A	5862	genome.wustl.edu	37	8	61504434	61504434	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr8:61504434G>A	ENST00000262646.7	+	6	731	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Missense_Mutation_p.R103K	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	127					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GAATCTAGAAGAGAAGTAAAA	0.373																																																	0													92.0	97.0	95.0					8																	61504434		2203	4300	6503	SO:0001583	missense	5862				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.380G>A	8.37:g.61504434G>A	ENSP00000262646:p.Arg127Lys		B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R127K	ENST00000262646.7	37	c.380	CCDS6175.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.589289	0.96590	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000543829	T;T	0.78924	-1.22;-1.22	5.48	5.48	0.80851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.957	D	0.88950	0.3386	10	0.87932	D	0	.	19.7205	0.96142	0.0:0.0:1.0:0.0	.	103;127	B4DMQ5;P61019	.;RAB2A_HUMAN	K	127;103;81	ENSP00000262646:R127K;ENSP00000431846:R103K	ENSP00000262646:R127K	R	+	2	0	RAB2A	61666988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.791000	0.99081	2.723000	0.93209	0.585000	0.79938	AGA	RAB2A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.373	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	G			61504434	+1	no_errors	ENST00000262646	ensembl	human	known	70_37	missense	SNP	1.000	A
RAE1	8480	genome.wustl.edu	37	20	55931505	55931505	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr20:55931505C>T	ENST00000395841.2	+	4	619	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	RAE1_ENST00000527947.1_Missense_Mutation_p.R67C|RAE1_ENST00000371242.2_Missense_Mutation_p.R67C|RAE1_ENST00000395840.2_Missense_Mutation_p.R67C	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	67					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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 export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTACAGGTTCGCTGCTGGGA	0.438																																																	0													126.0	112.0	117.0					20																	55931505		2203	4300	6503	SO:0001583	missense	8480			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.199C>T	20.37:g.55931505C>T	ENSP00000379182:p.Arg67Cys		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R67C	ENST00000395841.2	37	c.199	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816157	0.90790	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.91	4.97	0.65823	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	D	0.86606	0.5973	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.928;0.994	D	0.90522	0.4489	10	0.87932	D	0	-20.4011	14.3884	0.66961	0.0:0.9293:0.0:0.0707	.	67;67	E9PQ57;P78406	.;RAE1L_HUMAN	C	67	ENSP00000379182:R67C;ENSP00000360286:R67C;ENSP00000432609:R67C;ENSP00000392097:R67C;ENSP00000393264:R67C;ENSP00000379181:R67C;ENSP00000402924:R67C	ENSP00000360286:R67C	R	+	1	0	RAE1	55364912	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.671000	0.68095	1.502000	0.48669	0.655000	0.94253	CGC	RAE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.438	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	C			55931505	+1	no_errors	ENST00000371242	ensembl	human	known	70_37	missense	SNP	1.000	T
RALGAPA1	253959	genome.wustl.edu	37	14	36157725	36157725	+	Intron	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:36157725C>G	ENST00000389698.3	-	17	2825				RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R819T|RALGAPA1_ENST00000258840.6_Intron|RALGAPA1_ENST00000307138.6_Intron	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTGGAGCCTCTGGTGGCATT	0.502																																																	0																																										SO:0001627	intron_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2434+1316G>C	14.37:g.36157725C>G			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R819T	ENST00000389698.3	37	c.2456	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	5.501	0.277432	0.10403	.	.	ENSG00000174373	ENST00000382366	D	0.94000	-3.33	6.02	6.02	0.97574	.	.	.	.	.	D	0.89339	0.6687	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83968	0.0325	8	0.14252	T	0.57	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	819	B9EK38	.	T	819	ENSP00000371803:R819T	ENSP00000371803:R819T	R	-	2	0	RALGAPA1	35227476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.850000	0.98022	0.650000	0.86243	AGA	RALGAPA1	-	NULL		0.502	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	C	XM_210022		36157725	-1	no_errors	ENST00000382366	ensembl	human	novel	70_37	missense	SNP	1.000	G
NELFE	7936	genome.wustl.edu	37	6	31922450	31922450	+	Silent	SNP	C	C	T	rs377559803|rs556062290|rs267600969	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:31922450C>T	ENST00000375429.3	-	7	850	c.624G>A	c.(622-624)cgG>cgA	p.R208R	NELFE_ENST00000444811.2_Silent_p.R178R|NELFE_ENST00000375425.5_Silent_p.R215R|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	208	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R208_D211delRDRD(1)									tgtctcgatcccggtctcgat	0.672													C|||	8	0.00159744	0.0	0.0058	5008	,	,		18055	0.0		0.0	False		,,,				2504	0.0041																1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											38.0	36.0	37.0					6																	31922450		2203	4300	6503	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.624G>A	6.37:g.31922450C>T			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R208	ENST00000375429.3	37	c.624	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.672	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	C			31922450	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	0.004	T
RDM1	201299	genome.wustl.edu	37	17	34252522	34252522	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:34252522G>A	ENST00000293273.6	-	3	441	c.396C>T	c.(394-396)atC>atT	p.I132I	RDM1_ENST00000394527.1_Silent_p.I109I|RDM1_ENST00000419453.2_Silent_p.I109I|RDM1_ENST00000430160.2_Silent_p.I109I|RDM1_ENST00000394528.3_Silent_p.I132I|RDM1_ENST00000431884.2_Silent_p.I132I|RDM1_ENST00000591402.1_Silent_p.I109I|RDM1_ENST00000394529.3_Silent_p.I109I|RDM1_ENST00000425909.3_Silent_p.I132I	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	132	Necessary for nuclear and nucleolar localization.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTTTACCTTGATGATCCTTT	0.393								Other identified genes with known or suspected DNA repair function																																									0													104.0	101.0	102.0					17																	34252522		2203	4300	6503	SO:0001819	synonymous_variant	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.396C>T	17.37:g.34252522G>A			A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom	p.I132	ENST00000293273.6	37	c.396	CCDS11301.1	17																																																																																			RDM1	-	pfam_Rad52_Rad22		0.393	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDM1	HGNC	protein_coding	OTTHUMT00000256588.2	G	NM_145654		34252522	-1	no_errors	ENST00000293273	ensembl	human	known	70_37	silent	SNP	0.996	A
RGAG1	57529	genome.wustl.edu	37	X	109696640	109696640	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:109696640C>A	ENST00000465301.2	+	3	3041	c.2795C>A	c.(2794-2796)gCc>gAc	p.A932D	RGAG1_ENST00000540313.1_Missense_Mutation_p.A932D	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	932										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGCTTCAGCCTCTGGACAT	0.527																																																	0													103.0	105.0	104.0					X																	109696640		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2795C>A	X.37:g.109696640C>A	ENSP00000419786:p.Ala932Asp		Q9P2M8	Missense_Mutation	SNP	NULL	p.A932D	ENST00000465301.2	37	c.2795	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806736	0.31961	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.54675	0.56;0.56	3.45	-0.488	0.12056	.	.	.	.	.	T	0.46092	0.1375	L	0.59436	1.845	0.09310	N	1	P	0.52061	0.95	P	0.45099	0.469	T	0.35574	-0.9783	8	.	.	.	-0.027	4.4497	0.11614	0.0:0.4845:0.1727:0.3428	.	932	Q8NET4	RGAG1_HUMAN	D	932	ENSP00000419786:A932D;ENSP00000441452:A932D	.	A	+	2	0	RGAG1	109583296	0.698000	0.27777	0.008000	0.14137	0.818000	0.46254	0.118000	0.15605	-0.256000	0.09473	0.466000	0.42574	GCC	RGAG1	-	NULL		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696640	+1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.020	A
RGPD3	653489	genome.wustl.edu	37	2	107029640	107029640	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:107029640G>A	ENST00000409886.3	-	22	5253	c.5166C>T	c.(5164-5166)ttC>ttT	p.F1722F	RGPD3_ENST00000304514.7_Silent_p.F1722F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1722	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGGCTTCAAGAAAATGAACT	0.423																																																	0													33.0	63.0	54.0					2																	107029640		692	1587	2279	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5166C>T	2.37:g.107029640G>A			B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.F1722	ENST00000409886.3	37	c.5166	CCDS46379.1	2																																																																																			RGPD3	-	pfam_GRIP,smart_GRIP,pfscan_GRIP		0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	G	XM_929931		107029640	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	silent	SNP	1.000	A
RLF	6018	genome.wustl.edu	37	1	40705375	40705375	+	Silent	SNP	C	C	A	rs552190750		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:40705375C>A	ENST00000372771.4	+	8	5028	c.5001C>A	c.(4999-5001)ctC>ctA	p.L1667L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1667					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATACTCTGCTCTACAGGGGAA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20504	0.0		0.001	False		,,,				2504	0.0																0													82.0	79.0	80.0					1																	40705375		2203	4300	6503	SO:0001819	synonymous_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5001C>A	1.37:g.40705375C>A			Q14CQ1|Q9NU60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1667	ENST00000372771.4	37	c.5001	CCDS448.1	1																																																																																			RLF	-	NULL		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40705375	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	silent	SNP	0.326	A
RPL31P11	641311	genome.wustl.edu	37	1	161654571	161654572	+	RNA	INS	-	-	T	rs36089916	byFrequency	TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:161654571_161654572insT	ENST00000426558.1	-	0	470_471					NR_002595.1				ribosomal protein L31 pseudogene 11																		GAACCTATGTCTTTTTTTTTTT	0.322													|||unknown(HR)	1686	0.336661	0.2595	0.4294	5008	,	,		18871	0.4306		0.2813	False		,,,				2504	0.3354																0																																												641311					1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654582_161654582dupT				RNA	INS	-	NULL	ENST00000426558.1	37	NULL		1																																																																																			RPL31P11	-	-		0.322	RPL31P11-002	KNOWN	basic	processed_transcript	RPL31P11	HGNC	pseudogene	OTTHUMT00000347090.2	-	NR_002595		161654572	-1	no_errors	ENST00000426558	ensembl	human	known	70_37	rna	INS	0.140:0.150	T
RPTOR	57521	genome.wustl.edu	37	17	78857241	78857241	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr17:78857241C>T	ENST00000306801.3	+	15	1969	c.1607C>T	c.(1606-1608)gCt>gTt	p.A536V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	536					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCATGACGGCTTTCATTCTC	0.567																																																	0													104.0	80.0	88.0					17																	78857241		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1607C>T	17.37:g.78857241C>T	ENSP00000307272:p.Ala536Val		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.A536V	ENST00000306801.3	37	c.1607	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784320	0.31593	.	.	ENSG00000141564	ENST00000306801	T	0.37752	1.18	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.145078	0.45867	D	0.000321	T	0.42426	0.1202	M	0.72118	2.19	0.80722	D	1	B	0.20671	0.047	B	0.19666	0.026	T	0.39623	-0.9605	10	0.49607	T	0.09	.	18.0463	0.89334	0.0:1.0:0.0:0.0	.	536	Q8N122	RPTOR_HUMAN	V	536	ENSP00000307272:A536V	ENSP00000307272:A536V	A	+	2	0	RPTOR	76471836	1.000000	0.71417	0.198000	0.23420	0.021000	0.10359	5.156000	0.64905	2.253000	0.74438	0.563000	0.77884	GCT	RPTOR	-	superfamily_ARM-type_fold		0.567	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78857241	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.893	T
SCCPDH	51097	genome.wustl.edu	37	1	246903556	246903556	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:246903556C>A	ENST00000366510.3	+	4	843	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	156						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTTTGACTCCATTCCAGCA	0.363																																																	0													56.0	58.0	58.0					1																	246903556		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.467C>A	1.37:g.246903556C>A	ENSP00000355467:p.Ser156Tyr		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.S156Y	ENST00000366510.3	37	c.467	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678643	0.88542	.	.	ENSG00000143653	ENST00000366510	T	0.46451	0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.92691	3.335	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79967	-0.1580	10	0.87932	D	0	.	18.7339	0.91746	0.0:1.0:0.0:0.0	.	156	Q8NBX0	SCPDL_HUMAN	Y	156	ENSP00000355467:S156Y	ENSP00000355467:S156Y	S	+	2	0	SCCPDH	244970179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.317000	0.65822	2.733000	0.93635	0.555000	0.69702	TCC	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn		0.363	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	C	NM_016002		246903556	+1	no_errors	ENST00000366510	ensembl	human	known	70_37	missense	SNP	1.000	A
SEC61B	10952	genome.wustl.edu	37	9	101984964	101984964	+	Intron	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr9:101984964G>C	ENST00000223641.4	+	2	164				SEC61B_ENST00000498603.1_Intron|SEC61B_ENST00000481573.1_3'UTR|ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_5'Flank	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CAGACTCGGAGATAGGACCCA	0.587																																																	0													7.0	8.0	8.0					9																	101984964		1924	3726	5650	SO:0001627	intron_variant	10952			L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.101+39G>C	9.37:g.101984964G>C			P38390|P38391|Q6IBC1	RNA	SNP	-	NULL	ENST00000223641.4	37	NULL	CCDS6741.1	9																																																																																			SEC61B	-	-		0.587	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61B	HGNC	protein_coding	OTTHUMT00000053391.1	G	NM_006808		101984964	+1	no_errors	ENST00000481573	ensembl	human	known	70_37	rna	SNP	0.001	C
SERPINA6	866	genome.wustl.edu	37	14	94780392	94780392	+	Silent	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:94780392G>C	ENST00000341584.3	-	2	740	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	198					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGATATAGTTGACCAGGACGA	0.498																																																	0													112.0	111.0	111.0					14																	94780392		2203	4300	6503	SO:0001819	synonymous_variant	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.594C>G	14.37:g.94780392G>C			A8K456|Q7Z2Q9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.V198	ENST00000341584.3	37	c.594	CCDS9924.1	14																																																																																			SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.498	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	G	NM_001756		94780392	-1	no_errors	ENST00000341584	ensembl	human	known	70_37	silent	SNP	1.000	C
SIRT2	22933	genome.wustl.edu	37	19	39370308	39370308	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:39370308C>T	ENST00000249396.7	-	14	1212	c.911G>A	c.(910-912)gGa>gAa	p.G304E	RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000392081.2_Missense_Mutation_p.G267E|RINL_ENST00000598904.1_5'Flank|SIRT2_ENST00000358931.5_Intron	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	304	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CATGCCTCCTCCGAGGCCCAT	0.657																																																	0													15.0	14.0	14.0					19																	39370308		2197	4293	6490	SO:0001583	missense	22933			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.911G>A	19.37:g.39370308C>T	ENSP00000249396:p.Gly304Glu		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.G304E	ENST00000249396.7	37	c.911	CCDS12523.1	19	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055841	0.36277	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000456703	T;T	0.17054	2.3;2.3	4.46	4.46	0.54185	.	0.159338	0.40640	N	0.001050	T	0.19604	0.0471	M	0.72479	2.2	0.80722	D	1	B;B;P	0.35628	0.104;0.063;0.513	B;B;B	0.25759	0.022;0.01;0.063	T	0.06552	-1.0820	10	0.39692	T	0.17	-16.7141	16.2896	0.82739	0.0:1.0:0.0:0.0	.	267;304;284	Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;SIRT2_HUMAN;.	E	304;267;289	ENSP00000249396:G304E;ENSP00000375931:G267E	ENSP00000249396:G304E	G	-	2	0	SIRT2	44062148	1.000000	0.71417	0.852000	0.33557	0.244000	0.25665	4.088000	0.57678	2.203000	0.70933	0.467000	0.42956	GGA	SIRT2	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.657	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	HGNC	protein_coding	OTTHUMT00000318278.1	C			39370308	-1	no_errors	ENST00000249396	ensembl	human	known	70_37	missense	SNP	1.000	T
SIGLEC10	89790	genome.wustl.edu	37	19	51917047	51917047	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:51917047C>T	ENST00000339313.5	-	10	1856	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	SIGLEC10_ENST00000432469.2_Silent_p.Q402Q|SIGLEC10_ENST00000439889.2_Silent_p.Q522Q|SIGLEC10_ENST00000353836.5_Silent_p.Q485Q|SIGLEC10_ENST00000441969.3_Silent_p.Q427Q|SIGLEC10_ENST00000436984.2_Silent_p.Q437Q|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Silent_p.Q395Q|SIGLEC10_ENST00000442846.3_Silent_p.Q337Q|SIGLEC10_ENST00000356298.5_Silent_p.Q580Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	580					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGTTTCTGTCTGAGTCCGTC	0.577																																																	0													131.0	121.0	124.0					19																	51917047		2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1740G>A	19.37:g.51917047C>T			A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q580	ENST00000339313.5	37	c.1740	CCDS12832.1	19																																																																																			SIGLEC10	-	NULL		0.577	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51917047	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	silent	SNP	0.000	T
SLC16A2	6567	genome.wustl.edu	37	X	73740862	73740862	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:73740862C>G	ENST00000587091.1	+	2	645	c.468C>G	c.(466-468)ttC>ttG	p.F156L	SLC16A2_ENST00000276033.5_Missense_Mutation_p.F230L	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	156			Missing (in MCT8 deficiency). {ECO:0000269|PubMed:15889350}.		monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGATCTTCTTCTGTTCTCCCA	0.527																																																	0													160.0	137.0	145.0					X																	73740862		2203	4300	6503	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.468C>G	X.37:g.73740862C>G	ENSP00000465734:p.Phe156Leu		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F230L	ENST00000587091.1	37	c.690	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912702	0.33721	.	.	ENSG00000147100	ENST00000276033	T	0.54479	0.57	5.58	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.148471	0.64402	D	0.000008	T	0.35248	0.0925	N	0.21142	0.635	0.50039	D	0.999846	B	0.06786	0.001	B	0.17979	0.02	T	0.14200	-1.0481	10	0.12766	T	0.61	.	11.174	0.48588	0.0:0.7767:0.1413:0.082	.	156	P36021	MOT8_HUMAN	L	230	ENSP00000276033:F230L	ENSP00000276033:F230L	F	+	3	2	SLC16A2	73657587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.692000	0.61746	2.340000	0.79590	0.597000	0.82753	TTC	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.527	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	C			73740862	+1	no_errors	ENST00000276033	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC2A9	56606	genome.wustl.edu	37	4	9982227	9982227	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:9982227G>A	ENST00000264784.3	-	5	723	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SLC2A9_ENST00000309065.3_Silent_p.L195L|SLC2A9_ENST00000506583.1_Silent_p.L195L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	224					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TTTCCCAGCAGCTCGGGCAGG	0.567																																																	0													62.0	56.0	58.0					4																	9982227		2203	4300	6503	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.670C>T	4.37:g.9982227G>A			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L224	ENST00000264784.3	37	c.670	CCDS3407.1	4																																																																																			SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.567	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9982227	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC2A9	56606	genome.wustl.edu	37	4	9987312	9987312	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:9987312G>T	ENST00000264784.3	-	4	569	c.516C>A	c.(514-516)ttC>ttA	p.F172L	SLC2A9_ENST00000309065.3_Missense_Mutation_p.F143L|SLC2A9_ENST00000506583.1_Missense_Mutation_p.F143L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	172					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGCCCATGATGAAGCGTCCCA	0.517																																																	0													78.0	75.0	76.0					4																	9987312		2203	4300	6503	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.516C>A	4.37:g.9987312G>T	ENSP00000264784:p.Phe172Leu		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.F172L	ENST00000264784.3	37	c.516	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250813	0.10130	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80738	0.23;-1.37;0.23;-1.41	5.47	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.237962	0.42420	N	0.000720	T	0.69646	0.3134	L	0.38953	1.18	0.33159	D	0.546736	B;B	0.26512	0.033;0.151	B;B	0.33690	0.044;0.168	T	0.67749	-0.5590	9	.	.	.	.	5.0251	0.14381	0.1712:0.1833:0.6455:0.0	.	143;172	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	143;172;143;143	ENSP00000422209:F143L;ENSP00000264784:F172L;ENSP00000311383:F143L;ENSP00000426800:F143L	.	F	-	3	2	SLC2A9	9596410	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	3.608000	0.54109	1.274000	0.44362	-0.291000	0.09656	TTC	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt		0.517	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	G			9987312	-1	no_errors	ENST00000264784	ensembl	human	known	70_37	missense	SNP	1.000	T
SLITRK6	84189	genome.wustl.edu	37	13	86369518	86369518	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr13:86369518G>A	ENST00000400286.2	-	2	1724	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	376					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTAAACTGTGAATAATATTT	0.373																																																	0													74.0	69.0	70.0					13																	86369518		1829	4087	5916	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1126C>T	13.37:g.86369518G>A	ENSP00000383143:p.His376Tyr		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H376Y	ENST00000400286.2	37	c.1126	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	G	5.288	0.238569	0.10023	.	.	ENSG00000184564	ENST00000400286	T	0.02395	4.31	5.76	4.92	0.64577	.	0.119866	0.56097	D	0.000022	T	0.02494	0.0076	N	0.24115	0.695	0.28195	N	0.927582	B	0.31730	0.337	B	0.25614	0.062	T	0.35001	-0.9806	10	0.66056	D	0.02	-11.4611	10.8216	0.46608	0.0:0.142:0.7104:0.1476	.	376	Q9H5Y7	SLIK6_HUMAN	Y	376	ENSP00000383143:H376Y	ENSP00000383143:H376Y	H	-	1	0	SLITRK6	85267519	1.000000	0.71417	0.990000	0.47175	0.290000	0.27261	5.523000	0.67099	1.456000	0.47831	-0.196000	0.12772	CAC	SLITRK6	-	NULL		0.373	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	G	NM_032229		86369518	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC3	9126	genome.wustl.edu	37	10	112343217	112343217	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:112343217G>A	ENST00000361804.4	+	11	1006	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	294					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTTAGTGCTGAAAGACAAGA	0.343																																																	0													86.0	85.0	85.0					10																	112343217		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.880G>A	10.37:g.112343217G>A	ENSP00000354720:p.Glu294Lys		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E294K	ENST00000361804.4	37	c.880	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955131	0.73902	.	.	ENSG00000108055	ENST00000361804	T	0.78003	-1.14	5.68	5.68	0.88126	RecF/RecN/SMC (1);	0.100019	0.64402	D	0.000003	T	0.81128	0.4758	M	0.62723	1.935	0.80722	D	1	P	0.36110	0.537	B	0.43018	0.405	T	0.77675	-0.2499	10	0.33940	T	0.23	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	294	Q9UQE7	SMC3_HUMAN	K	294	ENSP00000354720:E294K	ENSP00000354720:E294K	E	+	1	0	SMC3	112333207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.278000	0.95766	2.835000	0.97688	0.650000	0.86243	GAA	SMC3	-	pfam_RecF/RecN/SMC		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112343217	+1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	A
SMG1	23049	genome.wustl.edu	37	16	18849892	18849892	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:18849892G>A	ENST00000446231.2	-	43	7477	c.7065C>T	c.(7063-7065)taC>taT	p.Y2355Y	SMG1_ENST00000389467.3_Silent_p.Y2355Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2355	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGCAAACATTGTAATCTATGT	0.333																																																	0													147.0	136.0	139.0					16																	18849892		1830	4079	5909	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7065C>T	16.37:g.18849892G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y2355	ENST00000446231.2	37	c.7065	CCDS45430.1	16																																																																																			SMG1	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18849892	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A
SNAP29	9342	genome.wustl.edu	37	22	21237835	21237835	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:21237835C>T	ENST00000215730.7	+	4	725	c.597C>T	c.(595-597)caC>caT	p.H199H		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	199	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGCCTATCACCAGAAGATCG	0.532																																																	0													235.0	206.0	216.0					22																	21237835		2203	4300	6503	SO:0001819	synonymous_variant	9342			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.597C>T	22.37:g.21237835C>T				Silent	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.H199	ENST00000215730.7	37	c.597	CCDS13784.1	22																																																																																			SNAP29	-	smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP29	HGNC	protein_coding	OTTHUMT00000320000.4	C	NM_004782		21237835	+1	no_errors	ENST00000215730	ensembl	human	known	70_37	silent	SNP	1.000	T
SNHG24	101929369	genome.wustl.edu	37	14	101441171	101441171	+	lincRNA	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:101441171G>T	ENST00000554693.2	+	0	462				SNORD114-17_ENST00000364699.1_RNA|SNORD114-18_ENST00000365272.1_RNA|SNORD113_ENST00000364630.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-16_ENST00000363044.1_RNA|SNORD114-15_ENST00000364687.1_RNA|SNORD114-14_ENST00000362723.1_RNA																							TGGTGGCATTGGAGTTATGGA	0.358																																																	0													124.0	105.0	111.0					14																	101441171		876	1991	2867			767595																															14.37:g.101441171G>T				RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			SNORD114-17	-	-		0.358	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-17	HGNC	lincRNA	OTTHUMT00000468646.1	G			101441171	+1	no_errors	ENST00000364699	ensembl	human	known	70_37	rna	SNP	0.001	T
SPPL3	121665	genome.wustl.edu	37	12	121220471	121220471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:121220471C>T	ENST00000353487.2	-	6	992	c.489G>A	c.(487-489)tgG>tgA	p.W163*		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	164						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAAGCCAATGGCCAG	0.418																																																	0													104.0	80.0	88.0					12																	121220471		2203	4300	6503	SO:0001587	stop_gained	121665				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.489G>A	12.37:g.121220471C>T	ENSP00000288680:p.Trp163*		Q3MJ04|Q8TAU4|Q96DD9	Nonsense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.W163*	ENST00000353487.2	37	c.489	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312355	0.81358	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854	.	.	.	5.15	5.15	0.70609	.	0.107940	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9157	18.2223	0.89905	0.0:1.0:0.0:0.0	.	.	.	.	X	163;162;126;126;77	.	ENSP00000288680:W163X	W	-	3	0	AC069214.1	119704854	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.205000	0.77881	2.394000	0.81467	0.460000	0.39030	TGG	SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22		0.418	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	C	NM_139015		121220471	-1	no_errors	ENST00000353487	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41008209	41008209	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:41008209G>A	ENST00000352632.3	+	9	1158	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E358K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E358K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E358K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E358K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	358					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGCACGCTGGAGAAGCCTGT	0.602																																																	0													32.0	36.0	35.0					19																	41008209		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1072G>A	19.37:g.41008209G>A	ENSP00000263373:p.Glu358Lys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E358K	ENST00000352632.3	37	c.1072	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667320	0.88348	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.55588	0.51;0.51;0.51	3.42	3.42	0.39159	.	0.240641	0.25997	U	0.026964	T	0.72358	0.3450	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.967;0.991	T	0.78206	-0.2294	10	0.87932	D	0	.	14.7768	0.69736	0.0:0.0:1.0:0.0	.	358;358	Q9H254;Q71S06	SPTN4_HUMAN;.	K	358	ENSP00000263373:E358K;ENSP00000340345:E358K;ENSP00000340741:E358K	ENSP00000340345:E358K	E	+	1	0	SPTBN4	45700049	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.567000	0.98161	2.219000	0.72066	0.467000	0.42956	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41008209	+1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	A
SRRM4	84530	genome.wustl.edu	37	12	119594444	119594444	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:119594444G>A	ENST00000267260.4	+	13	2065	c.1677G>A	c.(1675-1677)cgG>cgA	p.R559R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	559	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						gccggagccggagacggagcc	0.731																																																	0													6.0	8.0	8.0					12																	119594444		1970	4133	6103	SO:0001819	synonymous_variant	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1677G>A	12.37:g.119594444G>A			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.R559	ENST00000267260.4	37	c.1677	CCDS44994.1	12																																																																																			SRRM4	-	NULL		0.731	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	G	NM_194286		119594444	+1	no_errors	ENST00000267260	ensembl	human	known	70_37	silent	SNP	0.961	A
SUV420H2	84787	genome.wustl.edu	37	19	55858727	55858727	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:55858727C>T	ENST00000255613.3	+	9	1547	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	433	Required for heterochromatin localization. {ECO:0000250}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCAGGCCCTCGCCTTCGCCC	0.697																																																	0													7.0	7.0	7.0					19																	55858727		2162	4249	6411	SO:0001819	synonymous_variant	84787			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.1299C>T	19.37:g.55858727C>T			Q8WZ10|Q9BRZ6	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L433	ENST00000255613.3	37	c.1299	CCDS12922.1	19																																																																																			SUV420H2	-	NULL		0.697	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	C	NM_032701		55858727	+1	no_errors	ENST00000255613	ensembl	human	known	70_37	silent	SNP	0.000	T
TET2	54790	genome.wustl.edu	37	4	106190797	106190797	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:106190797C>T	ENST00000540549.1	+	9	4935	c.4075C>T	c.(4075-4077)Cgt>Tgt	p.R1359C	TET2_ENST00000380013.4_Missense_Mutation_p.R1359C|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.R1380C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1359					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1359C(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCAGAGTGCCGTCTGGGTCT	0.453			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											107.0	93.0	97.0					4																	106190797		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4075C>T	4.37:g.106190797C>T	ENSP00000442788:p.Arg1359Cys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.R1359C	ENST00000540549.1	37	c.4075	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691905	0.88735	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.13089	2.62;2.62;2.62	5.87	5.02	0.67125	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.25121	0.0610	M	0.66378	2.025	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.48982	0.597;0.597	T	0.01805	-1.1270	9	0.49607	T	0.09	-4.4379	15.441	0.75181	0.0:0.9328:0.0:0.0672	.	1380;1359	E7EQS8;Q6N021	.;TET2_HUMAN	C	1359;1380;1359	ENSP00000442788:R1359C;ENSP00000425443:R1380C;ENSP00000369351:R1359C	ENSP00000369351:R1359C	R	+	1	0	TET2	106410246	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.945000	0.70226	1.468000	0.48064	0.655000	0.94253	CGT	TET2	-	NULL		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106190797	+1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	1.000	T
TET2	54790	genome.wustl.edu	37	4	106196258	106196258	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr4:106196258C>G	ENST00000540549.1	+	11	5451	c.4591C>G	c.(4591-4593)Cta>Gta	p.L1531V	TET2_ENST00000380013.4_Missense_Mutation_p.L1531V|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.L1552V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1531	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1531fs*43(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		gccccagcctctacagaagca	0.537			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											48.0	57.0	54.0					4																	106196258		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4591C>G	4.37:g.106196258C>G	ENSP00000442788:p.Leu1531Val		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L1531V	ENST00000540549.1	37	c.4591	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807169	0.16467	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.22945	1.93;1.93;1.93	4.71	2.74	0.32292	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.19967	0.0480	L	0.43923	1.385	0.09310	N	0.999997	B;B	0.27882	0.192;0.192	B;B	0.29077	0.098;0.098	T	0.24404	-1.0161	9	0.28530	T	0.3	-0.2308	5.9779	0.19391	0.0:0.7014:0.1858:0.1128	.	1552;1531	E7EQS8;Q6N021	.;TET2_HUMAN	V	1531;1552;1531	ENSP00000442788:L1531V;ENSP00000425443:L1552V;ENSP00000369351:L1531V	ENSP00000369351:L1531V	L	+	1	2	TET2	106415707	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-1.108000	0.03313	0.457000	0.26962	0.586000	0.80456	CTA	TET2	-	NULL		0.537	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106196258	+1	no_errors	ENST00000380013	ensembl	human	known	70_37	missense	SNP	0.001	G
TMEM132C	92293	genome.wustl.edu	37	12	129028589	129028589	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:129028589C>T	ENST00000435159.2	+	3	1062	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM132C_ENST00000315208.8_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	354						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGGGCAGCGGCGGAAAGCACG	0.667																																																	0													28.0	40.0	36.0					12																	129028589		692	1591	2283	SO:0001819	synonymous_variant	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1062C>T	12.37:g.129028589C>T			Q69YX8	Silent	SNP	NULL	p.G354	ENST00000435159.2	37	c.1062		12																																																																																			TMEM132C	-	NULL		0.667	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		C	XM_044062		129028589	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	silent	SNP	0.986	T
TMEM132D	121256	genome.wustl.edu	37	12	129563184	129563184	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:129563184C>T	ENST00000422113.2	-	8	2336	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	TMEM132D_ENST00000389441.4_Silent_p.V208V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	670					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCAGCTGCACCCCGAGGT	0.577																																																	0													155.0	129.0	138.0					12																	129563184		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2010G>A	12.37:g.129563184C>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.V670	ENST00000422113.2	37	c.2010	CCDS9266.1	12																																																																																			TMEM132D	-	NULL		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	C	NM_133448		129563184	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	silent	SNP	0.934	T
TMEM234	56063	genome.wustl.edu	37	1	32686761	32686761	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:32686761A>C	ENST00000344461.3	-	3	221	c.206T>G	c.(205-207)cTt>cGt	p.L69R	EIF3I_ENST00000373586.1_5'Flank|TMEM234_ENST00000373593.1_Missense_Mutation_p.L69R|TMEM234_ENST00000545122.1_Missense_Mutation_p.L69R|TMEM234_ENST00000309777.6_Missense_Mutation_p.L69R			Q8WY98	TM234_HUMAN	transmembrane protein 234	69						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						GTAATAGAGAAGGGATCCACA	0.547																																																	0													145.0	111.0	122.0					1																	32686761		2203	4300	6503	SO:0001583	missense	56063			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.206T>G	1.37:g.32686761A>C	ENSP00000344021:p.Leu69Arg		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	pfam_UPF0546	p.L69R	ENST00000344461.3	37	c.206		1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218471	0.79464	.	.	ENSG00000160055	ENST00000545122;ENST00000309777;ENST00000373593;ENST00000344461	T;T	0.71934	-0.61;-0.61	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	D	0.83903	0.5355	M	0.79926	2.475	0.49687	D	0.999811	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.974	D	0.86530	0.1821	10	0.72032	D	0.01	-19.5073	14.9144	0.70785	1.0:0.0:0.0:0.0	.	69;69	Q8WY98-2;Q8WY98-3	.;.	R	69	ENSP00000309792:L69R;ENSP00000344021:L69R	ENSP00000309792:L69R	L	-	2	0	TMEM234	32459348	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.164000	0.77533	2.070000	0.61991	0.379000	0.24179	CTT	TMEM234	-	pfam_UPF0546		0.547	TMEM234-009	PUTATIVE	basic	protein_coding	TMEM234	HGNC	protein_coding	OTTHUMT00000092260.2	A	NM_019118		32686761	-1	no_errors	ENST00000461402	ensembl	human	known	70_37	missense	SNP	1.000	C
TMTC3	160418	genome.wustl.edu	37	12	88547151	88547151	+	Silent	SNP	A	A	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:88547151A>G	ENST00000266712.6	+	3	493	c.273A>G	c.(271-273)tcA>tcG	p.S91S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	91					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACCAATGTCATATCATCTCC	0.348																																																	0													136.0	117.0	124.0					12																	88547151		2203	4300	6503	SO:0001819	synonymous_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.273A>G	12.37:g.88547151A>G			Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S91	ENST00000266712.6	37	c.273	CCDS9032.1	12																																																																																			TMTC3	-	NULL		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	A	NM_181783		88547151	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	silent	SNP	0.636	G
TNRC18	84629	genome.wustl.edu	37	7	5410712	5410712	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr7:5410712C>A	ENST00000430969.1	-	11	3861	c.3513G>T	c.(3511-3513)gaG>gaT	p.E1171D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1171D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1171	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GAGGCGGCAGCTCTGTGGGGC	0.701																																																	0													16.0	21.0	19.0					7																	5410712		2055	4173	6228	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3513G>T	7.37:g.5410712C>A	ENSP00000395538:p.Glu1171Asp		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1171D	ENST00000430969.1	37	c.3513	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	C	2.646	-0.283141	0.05642	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12672	2.66;2.66	4.87	3.0	0.34707	.	0.176869	0.27336	N	0.019836	T	0.14442	0.0349	M	0.70275	2.135	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26950	-1.0088	10	0.33940	T	0.23	.	6.1448	0.20278	0.1053:0.6381:0.1134:0.1432	.	1171	O15417	TNC18_HUMAN	D	1171;1171;226;226	ENSP00000382452:E1171D;ENSP00000395538:E1171D	ENSP00000330383:E226D	E	-	3	2	TNRC18	5377238	0.817000	0.29147	0.849000	0.33467	0.219000	0.24729	0.061000	0.14366	0.105000	0.17753	-1.598000	0.00824	GAG	TNRC18	-	NULL		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5410712	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.025	A
TNXB	7148	genome.wustl.edu	37	6	32049228	32049228	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:32049228T>C	ENST00000375244.3	-	10	4160	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Missense_Mutation_p.D1320G			P22105	TENX_HUMAN	tenascin XB	1407	Fibronectin type-III 5. {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						CCGGTCGGGATCCAGGCCGGG	0.607																																																	0													37.0	44.0	42.0					6																	32049228		2100	4221	6321	SO:0001583	missense	7148			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.3959A>G	6.37:g.32049228T>C	ENSP00000364393:p.Asp1320Gly		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,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D1320G	ENST00000375244.3	37	c.3959		6	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281988	0.40394	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	5.55	4.4	0.53042	.	0.754341	0.11281	N	0.580281	T	0.28599	0.0708	L	0.48642	1.525	0.09310	N	1	B	0.25206	0.12	B	0.37550	0.253	T	0.42344	-0.9457	10	0.21540	T	0.41	.	7.0143	0.24879	0.0:0.1762:0.0:0.8238	.	1320	P22105-3	.	G	1320	ENSP00000364393:D1320G;ENSP00000364396:D1320G	ENSP00000364393:D1320G	D	-	2	0	TNXB	32157206	0.121000	0.22262	0.690000	0.30148	0.730000	0.41778	1.308000	0.33528	0.950000	0.37743	0.334000	0.21626	GAT	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	T	NM_019105		32049228	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.344	C
TPTE	7179	genome.wustl.edu	37	21	10942925	10942927	+	In_Frame_Del	DEL	CTT	CTT	-	rs113444703|rs386816290|rs3047743|rs558478158		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr21:10942925_10942927delCTT	ENST00000361285.4	-	12	989_991	c.660_662delAAG	c.(658-663)agaagg>agg	p.220_221RR>R	TPTE_ENST00000342420.5_In_Frame_Del_p.182_183RR>R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_In_Frame_Del_p.202_203RR>R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	220					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTACCCGCCTTCTTATCAGCT	0.32																																																	0																																										SO:0001651	inframe_deletion	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.660_662delAAG	21.37:g.10942928_10942930delCTT	ENSP00000355208:p.Arg222del		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	In_Frame_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R222in_frame_del	ENST00000361285.4	37	c.662_660	CCDS13560.2	21																																																																																			TPTE	-	NULL		0.320	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	CTT			10942927	-1	no_errors	ENST00000361285	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
TRIM34	53840	genome.wustl.edu	37	11	5655130	5655130	+	Splice_Site	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr11:5655130G>T	ENST00000514226.1	+	3	856		c.e3+1		TRIM34_ENST00000429814.2_Splice_Site|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Splice_Site|TRIM6-TRIM34_ENST00000354852.5_Splice_Site	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34						positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGGAAGGCAAGAGGAGA	0.473																																																	0													63.0	64.0	64.0					11																	5655130		2201	4297	6498	SO:0001630	splice_region_variant	445372			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.519+1G>T	11.37:g.5655130G>T			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Splice_Site	SNP	-	e9+1	ENST00000514226.1	37	c.1581+1	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917677	0.52546	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1174	0.48268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM34;TRIM6-TRIM34	5611706	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.444000	0.44890	2.331000	0.79229	0.655000	0.94253	.	TRIM6-TRIM34	-	-		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	G	NM_001003827	Intron	5655130	+1	no_errors	ENST00000354852	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179469564	179469564	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:179469564C>G	ENST00000591111.1	-	231	49553	c.49329G>C	c.(49327-49329)ttG>ttC	p.L16443F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9211F|TTN_ENST00000359218.5_Missense_Mutation_p.L9144F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18084F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9019F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15516F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16443	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCCATGTCAAGTAGCAAG	0.433																																																	0													131.0	119.0	123.0					2																	179469564		1901	4143	6044	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49329G>C	2.37:g.179469564C>G	ENSP00000465570:p.Leu16443Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L15516F	ENST00000591111.1	37	c.46548		2	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929337	0.18131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.74	2.93	0.34026	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81484	0.4832	M	0.93808	3.46	0.42388	D	0.992518	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81760	-0.0785	9	0.87932	D	0	.	8.5796	0.33621	0.0:0.6169:0.0:0.3831	.	9019;9144;9211;16443	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	15516;9019;9211;9144;9019	ENSP00000343764:L15516F;ENSP00000434586:L9019F;ENSP00000340554:L9211F;ENSP00000352154:L9144F	ENSP00000340554:L9211F	L	-	3	2	TTN	179177809	0.812000	0.29077	0.999000	0.59377	0.928000	0.56348	-0.105000	0.10907	0.421000	0.25980	0.563000	0.77884	TTG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179469564	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.993	G
TTN	7273	genome.wustl.edu	37	2	179489195	179489195	+	Missense_Mutation	SNP	C	C	T	rs367560855		TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr2:179489195C>T	ENST00000591111.1	-	192	40113	c.39889G>A	c.(39889-39891)Gtg>Atg	p.V13297M	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6065M|TTN_ENST00000359218.5_Missense_Mutation_p.V5998M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V14938M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5873M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12370M			Q8WZ42	TITIN_HUMAN	titin	13297			V -> A. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V12370L(2)|p.V5998L(1)|p.V6065L(1)|p.V5873L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTACGCACGACATTCAGG	0.363																																																	5	Substitution - Missense(5)	lung(5)						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3746		0,0,1873	123.0	122.0	122.0		17617,37108,17992,18193	3.9	1.0	2		122	1,8199		0,1,4099	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,5972	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	5873/26927,12370/33424,5998/27052,6065/27119	179489195	1,11945	1873	4100	5973	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39889G>A	2.37:g.179489195C>T	ENSP00000465570:p.Val13297Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V12370M	ENST00000591111.1	37	c.37108		2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452556	0.43531	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.72	3.91	0.45181	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.29908	0.895	0.34775	D	0.73411	P;P;P;P	0.52316	0.952;0.952;0.952;0.952	B;B;B;B	0.39660	0.306;0.306;0.306;0.306	T	0.30208	-0.9986	9	0.87932	D	0	.	12.4478	0.55662	0.0:0.863:0.0:0.137	.	5873;5998;6065;13297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12370;5873;6065;5998;5873	ENSP00000343764:V12370M;ENSP00000434586:V5873M;ENSP00000340554:V6065M;ENSP00000352154:V5998M	ENSP00000340554:V6065M	V	-	1	0	TTN	179197440	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.820000	0.55693	0.748000	0.32831	0.557000	0.71058	GTG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179489195	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBA8	51807	genome.wustl.edu	37	22	18609626	18609626	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr22:18609626C>G	ENST00000330423.3	+	4	954	c.881C>G	c.(880-882)tCc>tGc	p.S294C	TUBA8_ENST00000316027.6_Missense_Mutation_p.S228C	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	294					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						ATAACCAGCTCCTGCTTTGAG	0.602																																																	0													114.0	94.0	101.0					22																	18609626		2203	4300	6503	SO:0001583	missense	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.881C>G	22.37:g.18609626C>G	ENSP00000333326:p.Ser294Cys		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S294C	ENST00000330423.3	37	c.881	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	14.95	2.688276	0.48097	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84660	-1.88;-1.88;-1.88	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.177273	0.50627	D	0.000104	D	0.94262	0.8157	H	0.96970	3.915	0.54753	D	0.999984	P;P;P	0.47677	0.868;0.868;0.899	P;P;P	0.54856	0.72;0.762;0.676	D	0.95501	0.8577	10	0.87932	D	0	.	19.1191	0.93355	0.0:1.0:0.0:0.0	.	228;318;294	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	C	228;294;318	ENSP00000318575:S228C;ENSP00000333326:S294C;ENSP00000412646:S318C	ENSP00000318575:S228C	S	+	2	0	TUBA8	16989626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.837000	0.97791	0.655000	0.94253	TCC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.602	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	C	NM_018943		18609626	+1	no_errors	ENST00000330423	ensembl	human	known	70_37	missense	SNP	1.000	G
UHMK1	127933	genome.wustl.edu	37	1	162493117	162493117	+	3'UTR	SNP	G	G	C			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:162493117G>C	ENST00000489294.1	+	0	2195				UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_3'UTR|UHMK1_ENST00000545294.1_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACATCCGTAAGATTTAAGATA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	127933			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.*777G>C	1.37:g.162493117G>C			A8K8K4|G3V1M1|Q96C22	RNA	SNP	-	NULL	ENST00000489294.1	37	NULL	CCDS1239.1	1																																																																																			UHMK1	-	-		0.358	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	G	NM_175866		162493117	+1	no_errors	ENST00000282169	ensembl	human	known	70_37	rna	SNP	0.001	C
USP9X	8239	genome.wustl.edu	37	X	41075524	41075524	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:41075524G>A	ENST00000324545.8	+	35	6337	c.5704G>A	c.(5704-5706)Gat>Aat	p.D1902N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1902N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1902	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAATTTGATGATGGTGATGT	0.408																																					Ovarian(172;1807 2695 35459 49286)												0													104.0	105.0	105.0					X																	41075524		2200	4300	6500	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5704G>A	X.37:g.41075524G>A	ENSP00000316357:p.Asp1902Asn		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1902N	ENST00000324545.8	37	c.5704	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828638	0.90955	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.48522	0.81;0.81	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90542	0.4503	10	0.87932	D	0	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1902;1902	Q93008-1;Q93008	.;USP9X_HUMAN	N	1902	ENSP00000367558:D1902N;ENSP00000316357:D1902N	ENSP00000316357:D1902N	D	+	1	0	USP9X	40960468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.439000	0.82584	0.544000	0.68410	GAT	USP9X	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41075524	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
VWA5B1	127731	genome.wustl.edu	37	1	20649867	20649867	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr1:20649867C>T	ENST00000375079.2	+	8	1181	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	VWA5B1_ENST00000375083.4_Missense_Mutation_p.R329C|VWA5B1_ENST00000289825.4_Missense_Mutation_p.R46C|RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000289815.8_Missense_Mutation_p.R329C	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	329						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						CATTCGAAAACGCCTCCACAA	0.547																																																	0													67.0	59.0	61.0					1																	20649867		692	1591	2283	SO:0001583	missense	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.985C>T	1.37:g.20649867C>T	ENSP00000364220:p.Arg329Cys		A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R329C	ENST00000375079.2	37	c.985		1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262519	0.80358	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.07327	3.5;3.2;3.2;3.47	5.44	5.44	0.79542	.	0.122715	0.53938	D	0.000045	T	0.31513	0.0799	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.927;1.0;0.984	T	0.02208	-1.1195	10	0.87932	D	0	-16.6907	16.7439	0.85467	0.0:1.0:0.0:0.0	.	329;329;46	Q5TIE3;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.	C	329;329;329;46;329	ENSP00000289815:R329C;ENSP00000364224:R329C;ENSP00000289825:R46C;ENSP00000364220:R329C	ENSP00000289815:R329C	R	+	1	0	VWA5B1	20522454	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	2.045000	0.41250	2.547000	0.85894	0.655000	0.94253	CGC	VWA5B1	-	NULL		0.547	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	C	XM_001722222		20649867	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	1.000	T
VWF	7450	genome.wustl.edu	37	12	6232014	6232014	+	Intron	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr12:6232014C>T	ENST00000261405.5	-	2	310				VWF_ENST00000572068.1_Missense_Mutation_p.G15R|VWF_ENST00000545906.1_5'UTR	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	actaataatccatccaagtct	0.453																																																	0													107.0	102.0	103.0					12																	6232014		876	1991	2867	SO:0001627	intron_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.55+293G>A	12.37:g.6232014C>T			Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,smart_VWF_type-D	p.G15R	ENST00000261405.5	37	c.43	CCDS8539.1	12																																																																																			VWF	-	NULL		0.453	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6232014	-1	no_errors	ENST00000572068	ensembl	human	known	70_37	missense	SNP	0.000	T
WAPAL	23063	genome.wustl.edu	37	10	88196319	88196319	+	3'UTR	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:88196319C>T	ENST00000298767.5	-	0	5026				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TAAGGCTTTGCGCTTATGCAA	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*981G>A	10.37:g.88196319C>T			A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	SNP	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-		0.333	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	C	NM_015045		88196319	-1	no_errors	ENST00000484070	ensembl	human	known	70_37	rna	SNP	1.000	T
ZBTB2	57621	genome.wustl.edu	37	6	151687599	151687599	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr6:151687599G>A	ENST00000325144.4	-	3	742	c.602C>T	c.(601-603)tCg>tTg	p.S201L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGGAGACAGCGAGGTCTGCAG	0.592																																																	0													82.0	82.0	82.0					6																	151687599		2203	4300	6503	SO:0001583	missense	57621			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.602C>T	6.37:g.151687599G>A	ENSP00000323183:p.Ser201Leu		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S201L	ENST00000325144.4	37	c.602	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369090	0.42003	.	.	ENSG00000181472	ENST00000325144	T	0.05319	3.46	5.35	5.35	0.76521	.	0.269718	0.37809	N	0.001939	T	0.02267	0.0070	N	0.24115	0.695	0.58432	D	0.999999	P	0.47545	0.897	B	0.32342	0.144	T	0.55630	-0.8111	10	0.46703	T	0.11	-21.0733	19.0868	0.93206	0.0:0.0:1.0:0.0	.	201	Q8N680	ZBTB2_HUMAN	L	201	ENSP00000323183:S201L	ENSP00000323183:S201L	S	-	2	0	ZBTB2	151729292	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	7.279000	0.78599	2.503000	0.84419	0.561000	0.74099	TCG	ZBTB2	-	NULL		0.592	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	G	NM_020861		151687599	-1	no_errors	ENST00000325144	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72993679	72993679	+	Silent	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr16:72993679C>T	ENST00000268489.5	-	2	1038	c.366G>A	c.(364-366)gaG>gaA	p.E122E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	122					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGTCACTCTCCTCGTCCCCCT	0.701																																																	0													33.0	35.0	34.0					16																	72993679		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.366G>A	16.37:g.72993679C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E122	ENST00000268489.5	37	c.366	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.701	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72993679	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	T
ZFYVE26	23503	genome.wustl.edu	37	14	68221929	68221929	+	Silent	SNP	G	G	A			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr14:68221929G>A	ENST00000347230.4	-	37	6963	c.6825C>T	c.(6823-6825)ttC>ttT	p.F2275F	ZFYVE26_ENST00000557306.1_Silent_p.F121F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2275					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTTGTGACTGAAGAACCGAA	0.483																																																	0													133.0	120.0	124.0					14																	68221929		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6825C>T	14.37:g.68221929G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.F2275	ENST00000347230.4	37	c.6825	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68221929	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	1.000	A
ZMYND11	10771	genome.wustl.edu	37	10	286010	286010	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr10:286010G>T	ENST00000397962.3	+	8	1140	c.712G>T	c.(712-714)Gct>Tct	p.A238S	ZMYND11_ENST00000381591.1_Missense_Mutation_p.A238S|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A184S|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A207S|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A153S|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A144S|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A153S|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A238S|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A221S|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A237S|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A144S|ZMYND11_ENST00000381604.4_Missense_Mutation_p.A198S|ZMYND11_ENST00000535374.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	238	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGTGAGCAAGCTGACATTGC	0.323																																																	0													106.0	113.0	110.0					10																	286010		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.712G>T	10.37:g.286010G>T	ENSP00000381053:p.Ala238Ser		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A238S	ENST00000397962.3	37	c.712	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228105	0.79576	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.58	5.58	0.84498	.	0.056481	0.64402	D	0.000001	T	0.38081	0.1027	L	0.41824	1.3	0.34979	D	0.753911	P;B;B;P;B;P;P;P;P	0.49358	0.923;0.007;0.022;0.698;0.409;0.515;0.454;0.454;0.698	P;B;B;B;B;B;B;B;B	0.51550	0.673;0.029;0.046;0.438;0.298;0.356;0.266;0.266;0.438	T	0.09487	-1.0672	9	0.27785	T	0.31	-13.8691	17.7538	0.88442	0.0:0.0:1.0:0.0	.	238;153;183;238;184;167;184;184;207	Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.;.;.	S	238;198;198;238;153;238;184;144;207;198;221;144	ENSP00000381053:A238S;ENSP00000309992:A198S;ENSP00000371015:A198S;ENSP00000381050:A153S;ENSP00000371003:A238S;ENSP00000385484:A184S;ENSP00000371020:A144S;ENSP00000386010:A207S;ENSP00000371017:A198S;ENSP00000370996:A221S;ENSP00000438461:A144S	ENSP00000309992:A198S	A	+	1	0	ZMYND11	276010	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	6.698000	0.74608	2.618000	0.88619	0.563000	0.77884	GCT	ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.323	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	G	NM_006624		286010	+1	no_errors	ENST00000381591	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF581	51545	genome.wustl.edu	37	19	56156266	56156266	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chr19:56156266C>G	ENST00000587252.1	+	2	602	c.329C>G	c.(328-330)tCg>tGg	p.S110W	ZNF581_ENST00000588537.1_Missense_Mutation_p.S110W|ZNF581_ENST00000270451.5_Missense_Mutation_p.S110W			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ATCACCCACTCGGAGGTAAAG	0.602																																																	0													71.0	65.0	67.0					19																	56156266		2203	4300	6503	SO:0001583	missense	51545			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.329C>G	19.37:g.56156266C>G	ENSP00000466047:p.Ser110Trp		B2RDM6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S110W	ENST00000587252.1	37	c.329	CCDS12932.1	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084339	0.76642	.	.	ENSG00000171425	ENST00000270451	T	0.20069	2.1	4.27	3.2	0.36748	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50154	0.1599	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59306	-0.7479	9	0.87932	D	0	.	11.8326	0.52305	0.0:0.9095:0.0:0.0904	.	110	Q9P0T4	ZN581_HUMAN	W	110	ENSP00000270451:S110W	ENSP00000270451:S110W	S	+	2	0	ZNF581	60848078	0.709000	0.27886	0.521000	0.27850	0.965000	0.64279	1.618000	0.36954	1.132000	0.42129	0.407000	0.27541	TCG	ZNF581	-	pfscan_Znf_C2H2		0.602	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF581	HGNC	protein_coding	OTTHUMT00000453430.1	C	NM_016535		56156266	+1	no_errors	ENST00000270451	ensembl	human	known	70_37	missense	SNP	0.988	G
ZNF711	7552	genome.wustl.edu	37	X	84526709	84526709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A439-01A-11D-A243-09	TCGA-EA-A439-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a6f9f51-18bc-450a-84a6-c29dc780ab8e	46278bf9-39e9-4f56-9f38-eb1d0fec4168	g.chrX:84526709C>T	ENST00000373165.3	+	9	2467	c.2161C>T	c.(2161-2163)Cga>Tga	p.R721*	ZNF711_ENST00000276123.3_Nonsense_Mutation_p.R721*|ZNF711_ENST00000542798.1_Nonsense_Mutation_p.R563*|ZNF711_ENST00000360700.4_Nonsense_Mutation_p.R767*|ZNF711_ENST00000395402.1_Nonsense_Mutation_p.R729*	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	721					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGCTTTAAACGACATGTGAT	0.363																																																	0													104.0	91.0	96.0					X																	84526709		2202	4299	6501	SO:0001587	stop_gained	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2161C>T	X.37:g.84526709C>T	ENSP00000362260:p.Arg721*		B4DSV4|Q6NX42|Q9Y4J6	Nonsense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R729*	ENST00000373165.3	37	c.2185	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.803259	0.98960	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	.	.	.	4.51	4.51	0.55191	.	0.000000	0.35207	N	0.003376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5716	11.9883	0.53161	0.1731:0.8269:0.0:0.0	.	.	.	.	X	729;721;721;767;563	.	ENSP00000276123:R721X	R	+	1	2	ZNF711	84413365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.659000	0.68010	1.970000	0.57323	0.506000	0.49869	CGA	ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	C	NM_021998		84526709	+1	no_errors	ENST00000395402	ensembl	human	known	70_37	nonsense	SNP	1.000	T
