#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
ABCB4	5244	genome.wustl.edu	37	7	87041264	87041264	+	Nonsense_Mutation	SNP	G	G	A	rs121918440		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:87041264G>A	ENST00000265723.4	-	23	2980	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R957*|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R957*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	957	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCACCAAATCGAAAACAACCG	0.328																																																	0			GRCh37	CM981521	ABCB4	M	rs121918440						66.0	63.0	64.0					7																	87041264		2203	4300	6503	SO:0001587	stop_gained	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2869C>T	7.37:g.87041264G>A	ENSP00000265723:p.Arg957*		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R957*	ENST00000265723.4	37	c.2869	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.377929	0.98784	.	.	ENSG00000005471	ENST00000359206;ENST00000265723;ENST00000545634	.	.	.	5.48	3.69	0.42338	.	0.065482	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6955	5.8311	0.18581	0.2123:0.0:0.6526:0.1351	.	.	.	.	X	957	.	ENSP00000265723:R957X	R	-	1	2	ABCB4	86879200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.800000	0.47900	0.698000	0.31739	0.655000	0.94253	CGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.328	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	G	NM_000443		87041264	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	nonsense	SNP	0.999	A
ACOT13	55856	genome.wustl.edu	37	6	24701842	24701842	+	Silent	SNP	G	G	A	rs555358026		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:24701842G>A	ENST00000230048.4	+	3	615	c.422G>A	c.(421-423)tGa>tAa	p.*141*	RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000537591.1_Silent_p.*118*	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	0					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						CTGGGAAACTGAGAGAACAGC	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0																0													136.0	139.0	138.0					6																	24701842		2203	4300	6503	SO:0001819	synonymous_variant	55856			AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.422G>A	6.37:g.24701842G>A			F5H2L4|O95549	Silent	SNP	pfam_Thioestr_supf,tigrfam_PAAI_dom	p.*141	ENST00000230048.4	37	c.422	CCDS4558.1	6																																																																																			ACOT13	-	NULL		0.363	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	HGNC	protein_coding	OTTHUMT00000040010.2	G	NM_018473		24701842	+1	no_errors	ENST00000230048	ensembl	human	known	70_37	silent	SNP	0.949	A
ACPT	93650	genome.wustl.edu	37	19	51297831	51297831	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:51297831G>C	ENST00000270593.1	+	9	979	c.979G>C	c.(979-981)Gat>Cat	p.D327H	ACPT_ENST00000270594.3_Missense_Mutation_p.D234H|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	327						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCCCGCCAAAGATGGAGGGTG	0.622																																																	0													39.0	39.0	39.0					19																	51297831		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.979G>C	19.37:g.51297831G>C	ENSP00000270593:p.Asp327His		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.D234H	ENST00000270593.1	37	c.700	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	N	13.31	2.198247	0.38806	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.33438	1.41;1.41	3.9	0.423	0.16463	.	0.964932	0.08538	N	0.931014	T	0.25494	0.0620	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.33240	-0.9876	10	0.87932	D	0	-2.828	8.008	0.30336	0.1743:0.1343:0.6914:0.0	.	327	Q9BZG2	PPAT_HUMAN	H	327;234	ENSP00000270593:D327H;ENSP00000270594:D234H	ENSP00000270593:D327H	D	+	1	0	ACPT	55989643	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.077000	0.14738	-0.117000	0.11872	-1.134000	0.01955	GAT	ACPT	-	pfam_His_Pase_superF_clade-2		0.622	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51297831	+1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.001	C
ADAL	161823	genome.wustl.edu	37	15	43628873	43628873	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:43628873G>C	ENST00000562188.1	+	3	260	c.244G>C	c.(244-246)Gat>Cat	p.D82H	ADAL_ENST00000389651.4_Missense_Mutation_p.D82H|ADAL_ENST00000428046.3_Missense_Mutation_p.D82H|ADAL_ENST00000422466.2_Missense_Mutation_p.D82H			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	82					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TAGCCCTGAAGATATTCTAAT	0.313																																																	0													75.0	74.0	74.0					15																	43628873		2200	4294	6494	SO:0001583	missense	161823				CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.244G>C	15.37:g.43628873G>C	ENSP00000456242:p.Asp82His		A6NHZ3|B4DQM8	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom	p.D82H	ENST00000562188.1	37	c.244		15	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644727	0.87859	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.83591	-1.74;-1.74;-1.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.73217	2.22	0.80722	D	1	P;D	0.55605	0.716;0.972	P;P	0.57960	0.601;0.83	D	0.88332	0.2969	10	0.45353	T	0.12	-22.0975	17.2961	0.87171	0.0:0.0:1.0:0.0	.	82;82	B4DQM8;Q6DHV7-2	.;.	H	82	ENSP00000398744:D82H;ENSP00000413074:D82H;ENSP00000374302:D82H	ENSP00000374302:D82H	D	+	1	0	ADAL	41416165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.297000	0.89942	2.670000	0.90874	0.643000	0.83706	GAT	ADAL	-	pfam_A/AMP_deaminase_dom		0.313	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ADAL	HGNC	protein_coding	OTTHUMT00000432960.1	G	XM_091156		43628873	+1	no_errors	ENST00000422466	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM17	6868	genome.wustl.edu	37	2	9676906	9676906	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:9676906G>C	ENST00000310823.3	-	3	464	c.282C>G	c.(280-282)ttC>ttG	p.F94L	ADAM17_ENST00000497134.1_Missense_Mutation_p.F94L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	94					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCACGACCTTGAAATTTTGTG	0.373																																																	0													153.0	129.0	137.0					2																	9676906		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.282C>G	2.37:g.9676906G>C	ENSP00000309968:p.Phe94Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F94L	ENST00000310823.3	37	c.282	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601335	0.46423	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06608	3.28;3.28	5.42	3.58	0.41010	Peptidase M12B, propeptide (1);	0.147699	0.64402	N	0.000007	T	0.05135	0.0137	L	0.33093	0.98	0.41498	D	0.988263	B;B;B;B	0.21381	0.001;0.055;0.001;0.055	B;B;B;B	0.26864	0.007;0.074;0.007;0.074	T	0.42224	-0.9464	10	0.23891	T	0.37	.	6.0513	0.19787	0.2082:0.1608:0.631:0.0	.	94;94;94;94	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	94	ENSP00000309968:F94L;ENSP00000418728:F94L	ENSP00000309968:F94L	F	-	3	2	ADAM17	9594357	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.141000	0.31528	0.623000	0.30267	0.585000	0.79938	TTC	ADAM17	-	pfam_Peptidase_M12B_N		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9676906	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	C
ADCY5	111	genome.wustl.edu	37	3	123003469	123003469	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:123003469G>T	ENST00000462833.1	-	21	4984	c.3772C>A	c.(3772-3774)Ccc>Acc	p.P1258T	ADCY5_ENST00000309879.5_Missense_Mutation_p.P908T|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000491190.1_Missense_Mutation_p.P916T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1258					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGAGCGGGGGCCCTCCATTG	0.632																																																	0													137.0	125.0	129.0					3																	123003469		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3772C>A	3.37:g.123003469G>T	ENSP00000419361:p.Pro1258Thr		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P1258T	ENST00000462833.1	37	c.3772	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612482	0.87258	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.80994	-1.03;-1.44;-1.43	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	L	0.33189	0.99	0.80722	D	1	B;D	0.89917	0.23;1.0	B;D	0.91635	0.131;0.999	D	0.86656	0.1901	10	0.62326	D	0.03	.	18.5089	0.90909	0.0:0.0:1.0:0.0	.	1258;916	O95622;B3KWA8	ADCY5_HUMAN;.	T	1258;916;908	ENSP00000419361:P1258T;ENSP00000418537:P916T;ENSP00000308685:P908T	ENSP00000308685:P908T	P	-	1	0	ADCY5	124486159	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	8.930000	0.92872	2.595000	0.87683	0.655000	0.94253	CCC	ADCY5	-	NULL		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123003469	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY8	114	genome.wustl.edu	37	8	131949350	131949350	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:131949350C>T	ENST00000286355.5	-	5	3542	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E484K|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	484					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGACCCATTTCAACACAGCAG	0.522										HNSCC(32;0.087)																																							0													132.0	119.0	123.0					8																	131949350		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1450G>A	8.37:g.131949350C>T	ENSP00000286355:p.Glu484Lys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E484K	ENST00000286355.5	37	c.1450	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.945264	0.97134	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.81908	-1.55;-1.55;-1.55	5.6	5.6	0.85130	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	N	0.20986	0.625	0.53688	D	0.999971	D;D	0.71674	0.996;0.998	D;D	0.71184	0.972;0.955	D	0.84868	0.0823	10	0.37606	T	0.19	.	18.6065	0.91268	0.0:1.0:0.0:0.0	.	484;484	E7EVL1;P40145	.;ADCY8_HUMAN	K	484;484;99	ENSP00000286355:E484K;ENSP00000367161:E484K;ENSP00000428010:E99K	ENSP00000286355:E484K	E	-	1	0	ADCY8	132018532	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.794000	0.85869	2.653000	0.90120	0.650000	0.86243	GAA	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131949350	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105413217	105413217	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:105413217C>G	ENST00000333244.5	-	7	8690	c.8571G>C	c.(8569-8571)aaG>aaC	p.K2857N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2857						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)		p.K2857K(1)		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)			TGTCAGTGGTCTTAAGATCCC	0.642																																																	1	Substitution - coding silent(1)	ovary(1)											124.0	142.0	136.0					14																	105413217		1962	4157	6119	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.8571G>C	14.37:g.105413217C>G	ENSP00000353114:p.Lys2857Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K2857N	ENST00000333244.5	37	c.8571	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	11.81	1.749337	0.30955	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	3.07	1.2	0.21068	.	.	.	.	.	T	0.05593	0.0147	M	0.87328	2.875	0.09310	N	1	P	0.50528	0.936	P	0.50270	0.636	T	0.23833	-1.0177	9	0.37606	T	0.19	.	5.5913	0.17303	0.0:0.6356:0.1617:0.2027	.	2857	Q8IVF2	AHNK2_HUMAN	N	2857	ENSP00000353114:K2857N	ENSP00000353114:K2857N	K	-	3	2	AHNAK2	104484262	.	.	0.000000	0.03702	0.039000	0.13416	.	.	0.083000	0.17047	0.306000	0.20318	AAG	AHNAK2	-	NULL		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105413217	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	G
AIFM3	150209	genome.wustl.edu	37	22	21329099	21329099	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:21329099C>T	ENST00000399167.2	+	8	954	c.714C>T	c.(712-714)ctC>ctT	p.L238L	AIFM3_ENST00000399163.2_Silent_p.L238L|AIFM3_ENST00000335375.5_Silent_p.L226L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L238L|AIFM3_ENST00000405089.1_Silent_p.L244L|AIFM3_ENST00000440238.2_Silent_p.L238L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	238					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCCCAAGCTCAGCAAGGTAC	0.632																																																	0													43.0	41.0	42.0					22																	21329099		2203	4300	6503	SO:0001819	synonymous_variant	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.714C>T	22.37:g.21329099C>T			B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.L238	ENST00000399167.2	37	c.714	CCDS13786.1	22																																																																																			AIFM3	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	C	NM_144704		21329099	+1	no_errors	ENST00000399167	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM86B3P	286042	genome.wustl.edu	37	8	8097770	8097770	+	RNA	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:8097770G>C	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CGTCCTCTATGAGAAGAGAAT	0.562																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8097770G>C				RNA	SNP	-	NULL	ENST00000310542.3	37	NULL		8																																																																																			ALG1L13P	-	-		0.562	FAM86B3P-005	KNOWN	basic	processed_transcript	ALG1L13P	HGNC	pseudogene	OTTHUMT00000448496.1	G			8097770	-1	no_errors	ENST00000522393	ensembl	human	known	70_37	rna	SNP	0.160	C
AMICA1	120425	genome.wustl.edu	37	11	118081245	118081245	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:118081245G>A	ENST00000356289.5	-	4	554	c.381C>T	c.(379-381)ttC>ttT	p.F127F	AMICA1_ENST00000533261.1_Silent_p.F127F|AMICA1_ENST00000292067.7_Silent_p.F117F|AMICA1_ENST00000526620.1_Silent_p.F88F	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	127	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCGCCTTCTTGAACACCTGGC	0.517																																																	0													109.0	89.0	96.0					11																	118081245		2200	4296	6496	SO:0001819	synonymous_variant	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.381C>T	11.37:g.118081245G>A			B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.F127	ENST00000356289.5	37	c.381	CCDS41723.1	11																																																																																			AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.517	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	G	NM_153206		118081245	-1	no_errors	ENST00000356289	ensembl	human	known	70_37	silent	SNP	0.929	A
ANKLE2	23141	genome.wustl.edu	37	12	133313568	133313568	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:133313568C>T	ENST00000357997.5	-	8	1593	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E440K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E502K|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	502					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGAGAGGCCTCAGCCGTCTGG	0.642																																																	0													56.0	67.0	64.0					12																	133313568		1955	4149	6104	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1504G>A	12.37:g.133313568C>T	ENSP00000350686:p.Glu502Lys		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.E502K	ENST00000357997.5	37	c.1504	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	8.427	0.847659	0.17034	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.26	4.36	0.52297	.	0.797034	0.12546	N	0.459479	T	0.35364	0.0929	L	0.40543	1.245	0.09310	N	1	B;B	0.33883	0.2;0.43	B;B	0.28011	0.067;0.085	T	0.12682	-1.0538	10	0.06757	T	0.87	-12.4167	14.6149	0.68541	0.0:0.8545:0.1455:0.0	.	502;502	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	K	440;502;502;65	ENSP00000446268:E440K;ENSP00000350686:E502K;ENSP00000337651:E502K;ENSP00000437585:E65K	ENSP00000337651:E502K	E	-	1	0	ANKLE2	131823641	0.038000	0.19896	0.003000	0.11579	0.004000	0.04260	1.949000	0.40313	1.328000	0.45358	-0.172000	0.13284	GAG	ANKLE2	-	NULL		0.642	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133313568	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.017	T
ANKRD12	23253	genome.wustl.edu	37	18	9281101	9281101	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:9281101G>A	ENST00000262126.4	+	13	6406	c.6166G>A	c.(6166-6168)Gac>Aac	p.D2056N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2033N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D2033N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2056						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGTTAACGACGACTTTGAATT	0.408																																																	0													157.0	148.0	151.0					18																	9281101		2203	4300	6503	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6166G>A	18.37:g.9281101G>A	ENSP00000262126:p.Asp2056Asn		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D2056N	ENST00000262126.4	37	c.6166	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607629	0.87157	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.79845	-1.3;-1.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.90021	0.6884	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.90565	0.4518	10	0.87932	D	0	-15.0898	19.6028	0.95570	0.0:0.0:1.0:0.0	.	2033;2056	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	2033;2056	ENSP00000372932:D2033N;ENSP00000262126:D2056N	ENSP00000262126:D2056N	D	+	1	0	ANKRD12	9271101	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.648000	0.89879	0.591000	0.81541	GAC	ANKRD12	-	NULL		0.408	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9281101	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKRD36BP2	645784	genome.wustl.edu	37	2	89065610	89065610	+	RNA	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:89065610C>T	ENST00000393525.3	+	0	226				AC096579.1_ENST00000408759.1_RNA					ankyrin repeat domain 36B pseudogene 2																		TAAATCGTCTCATCTGAGGAG	0.517																																																	0																																												645784					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89065610C>T				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-		0.517	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	C			89065610	+1	no_errors	ENST00000393515	ensembl	human	known	70_37	rna	SNP	0.013	T
ANXA2R	389289	genome.wustl.edu	37	5	43039952	43039952	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:43039952C>T	ENST00000314890.3	-	2	1616	c.197G>A	c.(196-198)gGa>gAa	p.G66E	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	66																	CCAGTAGACTCCGGGCAGCCG	0.577											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43.0	47.0	46.0					5																	43039952		2203	4300	6503	SO:0001583	missense	389289			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.197G>A	5.37:g.43039952C>T	ENSP00000315915:p.Gly66Glu	913	Q8NHX5	Missense_Mutation	SNP	NULL	p.G66E	ENST00000314890.3	37	c.197	CCDS34153.1	5	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465522	0.26335	.	.	ENSG00000177721	ENST00000314890	T	0.31510	1.49	3.22	0.316	0.15857	.	.	.	.	.	T	0.16557	0.0398	L	0.29908	0.895	0.09310	N	1	B	0.32160	0.358	B	0.26969	0.075	T	0.19778	-1.0295	9	0.51188	T	0.08	.	1.8772	0.03220	0.1953:0.4501:0.2332:0.1213	.	66	Q3ZCQ2	AX2R_HUMAN	E	66	ENSP00000315915:G66E	ENSP00000315915:G66E	G	-	2	0	C5orf39	43075709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.507000	0.02268	0.034000	0.15491	0.655000	0.94253	GGA	ANXA2R	-	NULL		0.577	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2R	HGNC	protein_coding	OTTHUMT00000368030.1	C	NM_001014279		43039952	-1	no_errors	ENST00000314890	ensembl	human	known	70_37	missense	SNP	0.000	T
AP4B1	10717	genome.wustl.edu	37	1	114443928	114443928	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:114443928G>A	ENST00000369569.1	-	4	827	c.547C>T	c.(547-549)Cta>Tta	p.L183L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L183L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	183					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCCTCTAGAGACCTCAAG	0.403																																																	0													101.0	99.0	100.0					1																	114443928		2203	4300	6503	SO:0001819	synonymous_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.547C>T	1.37:g.114443928G>A			B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.L183	ENST00000369569.1	37	c.547	CCDS865.1	1																																																																																			AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.403	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114443928	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	silent	SNP	0.997	A
APLP1	333	genome.wustl.edu	37	19	36365690	36365690	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:36365690G>C	ENST00000221891.4	+	10	1455	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.Q415H|APLP1_ENST00000537454.2_Missense_Mutation_p.Q382H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	421	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCGGAGCAGAAGGAACAGA	0.652																																																	0													64.0	49.0	54.0					19																	36365690		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1263G>C	19.37:g.36365690G>C	ENSP00000221891:p.Gln421His		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.Q421H	ENST00000221891.4	37	c.1263	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515566	0.85389	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48201	0.82;0.82	4.72	4.72	0.59763	Amyloidogenic glycoprotein, E2 domain (2);	0.746320	0.11684	N	0.539530	T	0.60196	0.2250	L	0.38175	1.15	0.58432	D	0.999999	D;P;D;D	0.89917	0.999;0.935;1.0;1.0	D;P;D;D	0.79784	0.986;0.782;0.988;0.993	T	0.54351	-0.8307	10	0.40728	T	0.16	-5.4799	15.1758	0.72910	0.0:0.0:1.0:0.0	.	415;382;421;421	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	382;421	ENSP00000441501:Q382H;ENSP00000221891:Q421H	ENSP00000221891:Q421H	Q	+	3	2	APLP1	41057530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.686000	0.61700	2.171000	0.68590	0.555000	0.69702	CAG	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	G	NM_001024807		36365690	+1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	1.000	C
ARRDC1	92714	genome.wustl.edu	37	9	140508900	140508900	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:140508900C>T	ENST00000371421.4	+	6	832	c.768C>T	c.(766-768)agC>agT	p.S256S	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	256						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CGGGCTGCAGCCTCATCCACA	0.682																																																	0													58.0	69.0	65.0					9																	140508900		2200	4300	6500	SO:0001819	synonymous_variant	92714			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.768C>T	9.37:g.140508900C>T				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.S256	ENST00000371421.4	37	c.768	CCDS7049.1	9																																																																																			ARRDC1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.682	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	HGNC	protein_coding	OTTHUMT00000055358.1	C	NM_152285		140508900	+1	no_errors	ENST00000371421	ensembl	human	known	70_37	silent	SNP	1.000	T
ATG9A	79065	genome.wustl.edu	37	2	220087138	220087138	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:220087138G>A	ENST00000409618.1	-	12	2322	c.1883C>T	c.(1882-1884)tCa>tTa	p.S628L	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.S567L|ATG9A_ENST00000396761.2_Missense_Mutation_p.S628L|ATG9A_ENST00000361242.4_Missense_Mutation_p.S628L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	628					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCAGGATGAGCCAGCTAC	0.607																																																	0													39.0	44.0	42.0					2																	220087138		1954	4144	6098	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1883C>T	2.37:g.220087138G>A	ENSP00000386710:p.Ser628Leu		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.S628L	ENST00000409618.1	37	c.1883	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918160	0.52546	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.31510	1.9;1.9;1.9;1.49;1.5	5.35	5.35	0.76521	.	0.242563	0.43416	D	0.000575	T	0.27832	0.0685	L	0.47716	1.5	0.39433	D	0.967118	B	0.02656	0.0	B	0.01281	0.0	T	0.04153	-1.0973	10	0.37606	T	0.19	-4.7908	12.5613	0.56283	0.0756:0.0:0.9244:0.0	.	628	Q7Z3C6	ATG9A_HUMAN	L	628;628;628;567;187	ENSP00000379983:S628L;ENSP00000386710:S628L;ENSP00000355173:S628L;ENSP00000386535:S567L;ENSP00000400234:S187L	ENSP00000355173:S628L	S	-	2	0	ATG9A	219795382	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	5.572000	0.67411	2.790000	0.95986	0.591000	0.81541	TCA	ATG9A	-	NULL		0.607	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	G	NM_024085		220087138	-1	no_errors	ENST00000361242	ensembl	human	known	70_37	missense	SNP	0.999	A
ATP2A2	488	genome.wustl.edu	37	12	110734533	110734533	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:110734533G>C	ENST00000539276.2	+	5	563	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152Q|ATP2A2_ENST00000395494.2_Missense_Mutation_p.E152Q			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	152					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGATATTGTAGAAATTGCTGG	0.343																																																	0													139.0	131.0	134.0					12																	110734533		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.454G>C	12.37:g.110734533G>C	ENSP00000440045:p.Glu152Gln		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E152Q	ENST00000539276.2	37	c.454	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040273|4.040273	0.75732|0.75732	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000550248|ENST00000548169	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.45|5.45	5.45|5.45	0.79879|0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.044860|.	0.85682|.	D|.	0.000000|.	T|T	0.68210|0.68210	0.2976|0.2976	L|L	0.42744|0.42744	1.35|1.35	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33280|.	0.138;0.226;0.405|.	B;B;B|.	0.36504|.	0.111;0.102;0.226|.	T|T	0.63773|0.63773	-0.6561|-0.6561	9|5	.|.	.|.	.|.	.|.	19.2648|19.2648	0.93982|0.93982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;152;152|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	Q|T	152;152;152;27|69	ENSP00000311186:E152Q;ENSP00000378872:E152Q;ENSP00000440045:E152Q|.	.|.	E|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109218916|109218916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.466000|9.466000	0.97665|0.97665	2.550000|2.550000	0.86006|0.86006	0.579000|0.579000	0.79373|0.79373	GAA|AGA	ATP2A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.343	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	G	NM_001681		110734533	+1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP2A3	489	genome.wustl.edu	37	17	3839609	3839609	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:3839609C>T	ENST00000352011.3	-	16	2530	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	ATP2A3_ENST00000359983.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000309890.7_Missense_Mutation_p.E826K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E826K|ATP2A3_ENST00000397039.1_Missense_Mutation_p.E10K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E826K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	826					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATGAGGGCTTCTCGGGGGCTC	0.617																																					GBM(32;29 774 15719 37967)												0													57.0	62.0	61.0					17																	3839609		2203	4300	6503	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2476G>A	17.37:g.3839609C>T	ENSP00000301387:p.Glu826Lys		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.E826K	ENST00000352011.3	37	c.2476	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.089372	0.94149	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	4.43	4.43	0.53597	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.052969	0.85682	D	0.000000	D	0.95519	0.8544	M	0.90977	3.165	0.80722	D	1	D;D;P;D;D;D	0.67145	0.996;0.971;0.924;0.971;0.971;0.971	D;D;P;P;P;P	0.77004	0.989;0.936;0.879;0.907;0.907;0.907	D	0.96201	0.9145	10	0.87932	D	0	.	17.3058	0.87194	0.0:1.0:0.0:0.0	.	826;826;826;826;826;826	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	826;10;826;826;826;826;826;826	ENSP00000380236:E826K;ENSP00000380232:E10K;ENSP00000301387:E826K;ENSP00000353072:E826K;ENSP00000380234:E826K;ENSP00000312577:E826K;ENSP00000380229:E826K	ENSP00000312577:E826K	E	-	1	0	ATP2A3	3786358	1.000000	0.71417	0.964000	0.40570	0.817000	0.46193	7.651000	0.83577	2.756000	0.94617	0.561000	0.74099	GAA	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp		0.617	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3839609	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP2A3	489	genome.wustl.edu	37	17	3839724	3839724	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:3839724C>T	ENST00000352011.3	-	16	2415	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	ATP2A3_ENST00000359983.3_Silent_p.L787L|ATP2A3_ENST00000397035.3_Silent_p.L787L|ATP2A3_ENST00000309890.7_Silent_p.L787L|ATP2A3_ENST00000397041.3_Silent_p.L787L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.L787L			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	787					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCACAGGGATCAGGGCTTCGG	0.627																																					GBM(32;29 774 15719 37967)												0													77.0	79.0	78.0					17																	3839724		2203	4300	6503	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2361G>A	17.37:g.3839724C>T			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.L787	ENST00000352011.3	37	c.2361	CCDS11041.1	17																																																																																			ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp		0.627	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3839724	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	silent	SNP	1.000	T
ATXN7L1	222255	genome.wustl.edu	37	7	105254455	105254455	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:105254455C>T	ENST00000419735.3	-	10	2371	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	ATXN7L1_ENST00000388807.4_Missense_Mutation_p.E436K|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.E652K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	776	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						TTTTTTCCTTCTGATTTGTCA	0.502																																																	0													78.0	69.0	72.0					7																	105254455		692	1591	2283	SO:0001583	missense	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2326G>A	7.37:g.105254455C>T	ENSP00000410759:p.Glu776Lys		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	pfam_SCA7_dom	p.E776K	ENST00000419735.3	37	c.2326	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270051	0.80469	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.61703	1.905	0.46336	D	0.998991	D;P;P	0.56521	0.976;0.933;0.759	P;P;B	0.45753	0.492;0.461;0.202	T	0.54977	-0.8212	10	0.59425	D	0.04	.	19.2039	0.93722	0.0:1.0:0.0:0.0	.	662;652;776	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	K	776;652;477;436;652	ENSP00000410759:E776K;ENSP00000418476:E652K;ENSP00000418900:E477K;ENSP00000373459:E436K;ENSP00000419566:E652K	ENSP00000373459:E436K	E	-	1	0	ATXN7L1	105041691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.501000	0.73691	2.523000	0.85059	0.655000	0.94253	GAA	ATXN7L1	-	NULL		0.502	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	C			105254455	-1	no_errors	ENST00000419735	ensembl	human	known	70_37	missense	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33313525	33313525	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:33313525C>G	ENST00000242067.6	+	9	1494	c.973C>G	c.(973-975)Caa>Gaa	p.Q325E	BBS9_ENST00000354265.4_Missense_Mutation_p.Q325E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q325E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q325E|BBS9_ENST00000350941.3_Missense_Mutation_p.Q325E|BBS9_ENST00000425508.2_Missense_Mutation_p.Q280E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	325					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGGGCCACCCAACTTCCCCA	0.348									Bardet-Biedl syndrome																																								0													76.0	72.0	73.0					7																	33313525		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.973C>G	7.37:g.33313525C>G	ENSP00000242067:p.Gln325Glu		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.Q325E	ENST00000242067.6	37	c.973	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779833	0.90195	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000537775	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.72894	2.215	0.58432	D	0.999994	P;P;P;P;D	0.58970	0.954;0.941;0.941;0.941;0.984	P;P;P;P;P	0.60609	0.672;0.853;0.853;0.853;0.877	D	0.86332	0.1699	10	0.24483	T	0.36	-13.2306	19.5492	0.95311	0.0:1.0:0.0:0.0	.	325;325;325;325;325	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	E	325;325;325;325;325;325;325;280;203	ENSP00000242067:Q325E;ENSP00000313122:Q325E;ENSP00000379433:Q325E;ENSP00000347182:Q325E;ENSP00000346214:Q325E;ENSP00000405151:Q280E	ENSP00000242067:Q325E	Q	+	1	0	BBS9	33280050	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.078000	0.76821	2.636000	0.89361	0.484000	0.47621	CAA	BBS9	-	NULL		0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33313525	+1	no_errors	ENST00000242067	ensembl	human	known	70_37	missense	SNP	1.000	G
ATXN7L1	222255	genome.wustl.edu	37	7	105305653	105305653	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:105305653C>T	ENST00000419735.3	-	4	483	c.438G>A	c.(436-438)gtG>gtA	p.V146V	ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Silent_p.V22V	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	146										endometrium(1)|large_intestine(4)|lung(5)	10						CTTTTGTTTTCACCTGTACTA	0.507																																																	0													226.0	189.0	200.0					7																	105305653		692	1591	2283	SO:0001819	synonymous_variant	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.438G>A	7.37:g.105305653C>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	pfam_SCA7_dom	p.V146	ENST00000419735.3	37	c.438	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL		0.507	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	C			105305653	-1	no_errors	ENST00000419735	ensembl	human	known	70_37	silent	SNP	1.000	T
BEND2	139105	genome.wustl.edu	37	X	18189170	18189170	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:18189170C>T	ENST00000380033.4	-	13	2268	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	BEND2_ENST00000380030.3_Silent_p.L621L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	712	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGCCATGCTTCAGATTGCCAT	0.418																																																	0													214.0	189.0	198.0					X																	18189170		2203	4300	6503	SO:0001819	synonymous_variant	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2136G>A	X.37:g.18189170C>T			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.L712	ENST00000380033.4	37	c.2136	CCDS14184.1	X																																																																																			BEND2	-	pfam_BEN_domain		0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	C	NM_153346		18189170	-1	no_errors	ENST00000380033	ensembl	human	known	70_37	silent	SNP	0.000	T
BEND3	57673	genome.wustl.edu	37	6	107419825	107419825	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:107419825C>T	ENST00000369042.1	-	3	360	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	BEND3_ENST00000429433.2_Missense_Mutation_p.R57Q			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	57										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGCTGCTTTCGTTTGCTGGA	0.597																																																	0													83.0	78.0	80.0					6																	107419825		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.170G>A	6.37:g.107419825C>T	ENSP00000358038:p.Arg57Gln		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.R57Q	ENST00000369042.1	37	c.170	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.559727	0.96514	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000041	T	0.51787	0.1695	L	0.27053	0.805	0.32840	D	0.505225	D	0.69078	0.997	D	0.67725	0.953	T	0.58205	-0.7677	9	0.87932	D	0	26.3778	16.9212	0.86165	0.0:1.0:0.0:0.0	.	57	Q5T5X7	BEND3_HUMAN	Q	57	.	ENSP00000358038:R57Q	R	-	2	0	BEND3	107526518	0.975000	0.34042	0.942000	0.38095	0.886000	0.51366	2.983000	0.49345	2.776000	0.95493	0.655000	0.94253	CGA	BEND3	-	NULL		0.597	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107419825	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.993	T
BIRC2	329	genome.wustl.edu	37	11	102248819	102248819	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:102248819C>G	ENST00000227758.2	+	9	3161	c.1762C>G	c.(1762-1764)Cat>Gat	p.H588D	BIRC2_ENST00000530675.1_Missense_Mutation_p.H539D|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.H567D	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	588					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCCTTGTGGTCATCTGGTAGT	0.403																																																	0													146.0	135.0	139.0					11																	102248819		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1762C>G	11.37:g.102248819C>G	ENSP00000227758:p.His588Asp		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.H588D	ENST00000227758.2	37	c.1762	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011788	0.93346	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000532672;ENST00000531259	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.94	5.94	0.96194	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	-28.4353	20.3501	0.98811	0.0:1.0:0.0:0.0	.	588	Q13490	BIRC2_HUMAN	D	539;588;567;123	ENSP00000431723:H539D;ENSP00000227758:H588D;ENSP00000434979:H567D;ENSP00000436741:H123D	ENSP00000227758:H588D	H	+	1	0	BIRC2	101754029	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.711000	0.84669	2.821000	0.97095	0.655000	0.94253	CAT	BIRC2	-	smart_Znf_RING,pfscan_Znf_RING		0.403	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	C	NM_001166		102248819	+1	no_errors	ENST00000227758	ensembl	human	known	70_37	missense	SNP	1.000	G
BNC2	54796	genome.wustl.edu	37	9	16436817	16436817	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:16436817G>A	ENST00000380672.4	-	6	1432	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	BNC2_ENST00000545497.1_Missense_Mutation_p.H364Y|BNC2_ENST00000380667.2_Missense_Mutation_p.H392Y|BNC2_ENST00000380666.2_Missense_Mutation_p.H459Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCATTGTAATGAATTTTGAGA	0.443																																																	0													121.0	114.0	116.0					9																	16436817		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1375C>T	9.37:g.16436817G>A	ENSP00000370047:p.His459Tyr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H459Y	ENST00000380672.4	37	c.1375	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538128	0.65085	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	D;D;D;D;D	0.99964	-9.97;-9.97;-9.97;-9.97;-9.97	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.996;0.991;0.999;0.997;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.986;0.999;0.986;0.982;0.998;0.995;0.998	D	0.97061	0.9771	10	0.87932	D	0	-13.6158	20.6439	0.99570	0.0:0.0:1.0:0.0	.	364;392;459;285;459;416;459;364;224	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	Y	459;416;392;364;285;459;459	ENSP00000370047:H459Y;ENSP00000408370:H416Y;ENSP00000370042:H392Y;ENSP00000444640:H364Y;ENSP00000370041:H459Y	ENSP00000370041:H459Y	H	-	1	0	BNC2	16426817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CAT	BNC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	G	NM_017637		16436817	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	A
BNIP2	663	genome.wustl.edu	37	15	59970209	59970209	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:59970209C>G	ENST00000607373.1	-	5	575	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	BNIP2_ENST00000415213.2_Missense_Mutation_p.E187Q|BNIP2_ENST00000267859.3_Missense_Mutation_p.E246Q	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	125					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CGTCCATCTTCTTTTTCCTCT	0.413																																					Ovarian(174;1936 1978 6671 8240 38212)												0													150.0	133.0	139.0					15																	59970209		2190	4290	6480	SO:0001583	missense	663			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.373G>C	15.37:g.59970209C>G	ENSP00000475320:p.Glu125Gln		B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E246Q	ENST00000607373.1	37	c.736		15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212585	0.79240	.	.	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	T;T;T	0.56611	1.1;1.11;0.45	5.72	4.81	0.61882	.	0.048099	0.85682	D	0.000000	T	0.45637	0.1352	L	0.42487	1.325	0.51482	D	0.999927	B;B	0.15473	0.001;0.013	B;B	0.19666	0.01;0.026	T	0.31943	-0.9925	9	.	.	.	-23.2791	14.6798	0.69009	0.0:0.9305:0.0:0.0695	.	125;187	Q12982;Q12982-2	BNIP2_HUMAN;.	Q	246;187;3	ENSP00000267859:E246Q;ENSP00000412767:E187Q;ENSP00000393644:E3Q	.	E	-	1	0	BNIP2	57757501	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	4.550000	0.60733	1.436000	0.47453	0.655000	0.94253	GAA	BNIP2	-	pfam_Bcl2-/adenovirus-E1B		0.413	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	C	NM_004330		59970209	-1	no_errors	ENST00000267859	ensembl	human	known	70_37	missense	SNP	1.000	G
BRD1	23774	genome.wustl.edu	37	22	50217320	50217320	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50217320C>T	ENST00000216267.8	-	1	1132	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	BRD1_ENST00000404760.1_Missense_Mutation_p.V216M|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.V216M|BRD1_ENST00000457780.2_Missense_Mutation_p.V216M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	216					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGCAGCACACGGCGTCCTCG	0.597																																																	0													61.0	49.0	53.0					22																	50217320		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.646G>A	22.37:g.50217320C>T	ENSP00000216267:p.Val216Met		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.V216M	ENST00000216267.8	37	c.646	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238865	0.58995	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.73	4.73	0.59995	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94653	0.7841	9	.	.	.	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	216;216;216	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	M	216	ENSP00000216267:V216M;ENSP00000384076:V216M;ENSP00000385858:V216M;ENSP00000410042:V216M	.	V	-	1	0	BRD1	48603324	1.000000	0.71417	0.963000	0.40424	0.602000	0.36980	5.517000	0.67061	2.172000	0.68678	0.467000	0.42956	GTG	BRD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	C	NM_014577		50217320	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	T
BRE	9577	genome.wustl.edu	37	2	28248247	28248247	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:28248247G>C	ENST00000342045.2	+	6	596	c.455G>C	c.(454-456)gGa>gCa	p.G152A	BRE_ENST00000379632.2_Missense_Mutation_p.G152A|BRE_ENST00000344773.2_Missense_Mutation_p.G152A|BRE_ENST00000379624.1_Missense_Mutation_p.G152A|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Missense_Mutation_p.G152A	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCACAGTATGGAGAGAACATG	0.398																																																	0													56.0	61.0	59.0					2																	28248247		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.455G>C	2.37:g.28248247G>C	ENSP00000339371:p.Gly152Ala			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.G152A	ENST00000342045.2	37	c.455	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410649	0.42715	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629;ENST00000379623	.	.	.	5.51	5.51	0.81932	.	0.054016	0.64402	D	0.000001	T	0.59742	0.2216	L	0.43152	1.355	0.80722	D	1	D;P;P;P	0.56521	0.976;0.952;0.94;0.94	P;P;P;P	0.54060	0.741;0.69;0.563;0.563	T	0.54483	-0.8287	9	0.02654	T	1	-16.2614	19.4545	0.94882	0.0:0.0:1.0:0.0	.	152;152;152;152	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	A	152;152;152;152;152;152;152;54	.	ENSP00000339371:G152A	G	+	2	0	BRE	28101751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	2.590000	0.87494	0.650000	0.86243	GGA	BRE	-	pfam_Brain/reproduct-express_prot		0.398	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28248247	+1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C
BRWD3	254065	genome.wustl.edu	37	X	79946590	79946590	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:79946590G>A	ENST00000373275.4	-	31	3780	c.3564C>T	c.(3562-3564)ctC>ctT	p.L1188L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1188	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGATGGTATTGAGGTCAGTTG	0.358																																																	0													76.0	72.0	74.0					X																	79946590		2202	4300	6502	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3564C>T	X.37:g.79946590G>A			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L1188	ENST00000373275.4	37	c.3564	CCDS14447.1	X																																																																																			BRWD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79946590	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	79980505	79980505	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:79980505G>A	ENST00000373275.4	-	15	1664	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	483					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCTGCTGAAAGTATGAT	0.378																																																	0													102.0	88.0	93.0					X																	79980505		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1448C>T	X.37:g.79980505G>A	ENSP00000362372:p.Ser483Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S483L	ENST00000373275.4	37	c.1448	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.173789	0.94807	.	.	ENSG00000165288	ENST00000373275	T	0.72615	-0.67	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90819	0.4707	9	.	.	.	-8.6599	18.1599	0.89705	0.0:0.0:1.0:0.0	.	483	Q6RI45	BRWD3_HUMAN	L	483	ENSP00000362372:S483L	.	S	-	2	0	BRWD3	79867161	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.263000	0.95617	2.481000	0.83766	0.600000	0.82982	TCA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79980505	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	A
BST1	683	genome.wustl.edu	37	4	15709241	15709241	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:15709241G>C	ENST00000265016.4	+	3	618	c.423G>C	c.(421-423)ttG>ttC	p.L141F	BST1_ENST00000382346.3_Missense_Mutation_p.L156F	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	141					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CAGATTTCTTGAGCTGGTGTC	0.443																																																	0													128.0	123.0	124.0					4																	15709241		2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.423G>C	4.37:g.15709241G>C	ENSP00000265016:p.Leu141Phe		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.L141F	ENST00000265016.4	37	c.423	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478544|3.478544	0.63849|0.63849	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346|ENST00000505785	T;T|.	0.27720|.	1.65;1.65|.	5.62|5.62	3.84|3.84	0.44239|0.44239	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74574|.	0.3734|.	M|M	0.86864|0.86864	2.845|2.845	0.49915|0.49915	D|D	0.999839|0.999839	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.75964|.	-0.3132|.	10|.	0.87932|.	D|.	0|.	-26.4209|-26.4209	7.8789|7.8789	0.29610|0.29610	0.0877:0.1608:0.7516:0.0|0.0877:0.1608:0.7516:0.0	.|.	141|.	Q10588|.	BST1_HUMAN|.	F|S	141;156|37	ENSP00000265016:L141F;ENSP00000371783:L156F|.	ENSP00000265016:L141F|.	L|X	+|+	3|2	2|2	BST1|BST1	15318339|15318339	0.997000|0.997000	0.39634|0.39634	0.992000|0.992000	0.48379|0.48379	0.762000|0.762000	0.43233|0.43233	1.534000|1.534000	0.36051|0.36051	1.376000|1.376000	0.46267|0.46267	0.591000|0.591000	0.81541|0.81541	TTG|TGA	BST1	-	pfam_ADP-ribosyl_cyclase		0.443	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15709241	+1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.998	C
POPDC3	64208	genome.wustl.edu	37	6	105614566	105614566	+	Intron	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:105614566G>A	ENST00000254765.3	-	2	28				POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATGGTGGCCTGAAGTGCACCT	0.428																																																	0																																										SO:0001627	intron_variant	154442			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.251-4531C>T	6.37:g.105614566G>A			B2RA98|Q5T3Y8|Q8TBW6	RNA	SNP	-	NULL	ENST00000254765.3	37	NULL	CCDS5052.1	6																																																																																			BVES-AS1	-	-		0.428	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BVES-AS1	HGNC	protein_coding	OTTHUMT00000041651.1	G	NM_022361		105614566	+1	no_errors	ENST00000369122	ensembl	human	known	70_37	rna	SNP	0.006	A
C12orf45	121053	genome.wustl.edu	37	12	105388413	105388413	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:105388413C>T	ENST00000552951.1	+	4	540	c.497C>T	c.(496-498)tCt>tTt	p.S166F	C12orf45_ENST00000548583.1_3'UTR|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	166										large_intestine(1)|lung(2)	3						CTTCCCAATTCTGAAGGTGGA	0.373																																																	0													71.0	65.0	67.0					12																	105388413		1858	4092	5950	SO:0001583	missense	121053			BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.497C>T	12.37:g.105388413C>T	ENSP00000447057:p.Ser166Phe			Missense_Mutation	SNP	NULL	p.S166F	ENST00000552951.1	37	c.497	CCDS41825.1	12	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914713	0.72983	.	.	ENSG00000151131	ENST00000552951	T	0.33438	1.41	5.56	4.67	0.58626	.	0.794205	0.12112	N	0.498405	T	0.44498	0.1296	L	0.57536	1.79	0.25193	N	0.990114	D	0.59767	0.986	P	0.54312	0.748	T	0.29971	-0.9994	10	0.62326	D	0.03	-28.8538	11.8945	0.52650	0.0:0.9175:0.0:0.0825	.	166	Q8N5I9	CL045_HUMAN	F	166	ENSP00000447057:S166F	ENSP00000447057:S166F	S	+	2	0	C12orf45	103912543	0.948000	0.32251	0.888000	0.34837	0.996000	0.88848	1.132000	0.31418	1.483000	0.48342	0.650000	0.86243	TCT	C12orf45	-	NULL		0.373	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	HGNC	protein_coding	OTTHUMT00000406076.1	C	NM_152318		105388413	+1	no_errors	ENST00000552951	ensembl	human	known	70_37	missense	SNP	0.920	T
C17orf75	64149	genome.wustl.edu	37	17	30658984	30658984	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:30658984G>T	ENST00000577809.1	-	10	1038	c.989C>A	c.(988-990)aCa>aAa	p.T330K	C17orf75_ENST00000225805.4_Missense_Mutation_p.T330K|RP11-227G15.3_ENST00000581915.1_RNA|RP11-227G15.2_ENST00000580360.1_lincRNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	330										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAATTGTTTGTGTCTTGTAT	0.328																																																	0													90.0	86.0	87.0					17																	30658984		1810	4068	5878	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.989C>A	17.37:g.30658984G>T	ENSP00000464275:p.Thr330Lys		Q7Z2H4	Missense_Mutation	SNP	NULL	p.T330K	ENST00000577809.1	37	c.989	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739058	0.30774	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.89	3.9	0.45041	.	0.174176	0.64402	D	0.000006	T	0.45617	0.1351	L	0.44542	1.39	0.37928	D	0.931911	P	0.45827	0.867	B	0.44044	0.439	T	0.54063	-0.8349	9	0.66056	D	0.02	-12.1126	8.1979	0.31407	0.269:0.0:0.731:0.0	.	330	Q9HAS0	NJMU_HUMAN	K	330	.	ENSP00000225805:T330K	T	-	2	0	C17orf75	27683097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.746000	0.55127	1.508000	0.48769	0.561000	0.74099	ACA	C17orf75	-	NULL		0.328	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	G	NM_022344		30658984	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	1.000	T
C2orf54	79919	genome.wustl.edu	37	2	241830999	241830999	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:241830999G>A	ENST00000388934.4	-	2	854	c.696C>T	c.(694-696)ctC>ctT	p.L232L	C2orf54_ENST00000402775.2_Silent_p.L64L|C2orf54_ENST00000307486.8_Silent_p.L83L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	232										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCCCTTGGCTGAGGATCCTTC	0.672																																																	0													49.0	58.0	55.0					2																	241830999		2002	4162	6164	SO:0001819	synonymous_variant	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.696C>T	2.37:g.241830999G>A			B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	NULL	p.L232	ENST00000388934.4	37	c.696	CCDS42839.1	2																																																																																			C2orf54	-	NULL		0.672	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	HGNC	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437		241830999	-1	no_errors	ENST00000388934	ensembl	human	known	70_37	silent	SNP	0.000	A
ZGRF1	55345	genome.wustl.edu	37	4	113460799	113460799	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:113460799C>G	ENST00000505019.1	-	28	6344	c.6219G>C	c.(6217-6219)ctG>ctC	p.L2073L	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2073						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGAGATGGTTCAGCTGTGGTT	0.323																																																	0													94.0	90.0	91.0					4																	113460799		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.6219G>C	4.37:g.113460799C>G			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L2073	ENST00000505019.1	37	c.6219		4																																																																																			C4orf21	-	NULL		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113460799	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.993	G
C6orf1	221491	genome.wustl.edu	37	6	34214351	34214351	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:34214351G>A	ENST00000476320.1	-	5	1102	c.420C>T	c.(418-420)ctC>ctT	p.L140L	C6orf1_ENST00000335352.3_Silent_p.L120L|C6orf1_ENST00000413013.2_Silent_p.L120L|C6orf1_ENST00000394990.4_Silent_p.L140L|C6orf1_ENST00000468145.1_Silent_p.L140L|C6orf1_ENST00000481533.1_Silent_p.L140L	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	140						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		CTCTTCCCATGAGTGCCTGTG	0.622																																																	0													42.0	45.0	44.0					6																	34214351		2203	4300	6503	SO:0001819	synonymous_variant	221491			AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.420C>T	6.37:g.34214351G>A			A8K299	Silent	SNP	NULL	p.L140	ENST00000476320.1	37	c.420	CCDS4790.1	6																																																																																			C6orf1	-	NULL		0.622	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf1	HGNC	protein_coding	OTTHUMT00000357175.1	G	NM_178508		34214351	-1	no_errors	ENST00000394990	ensembl	human	known	70_37	silent	SNP	0.001	A
C6orf164	63914	genome.wustl.edu	37	6	88109152	88109152	+	Intron	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:88109152G>C	ENST00000369570.4	+	2	1256				RP1-102H19.8_ENST00000448282.2_3'UTR|RP1-102H19.8_ENST00000369572.2_3'UTR			Q5TEZ4	CF164_HUMAN	chromosome 6 open reading frame 164																		GCTCTCCTAGGAAGCCTGCAA	0.537																																																	0																																										SO:0001627	intron_variant	63914			AK021476		6q15-q16.1	2008-10-20			ENSG00000203871	ENSG00000203871			21404	protein-coding gene	gene with protein product							Standard	NR_026784		Approved	dJ102H19.4	uc021zcm.2	Q5TEZ4	OTTHUMG00000015170	ENST00000369570.4:c.164-4G>C	6.37:g.88109152G>C			A6NM89	Missense_Mutation	SNP	NULL	p.G55A	ENST00000369570.4	37	c.164		6	.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326556	0.05350	.	.	ENSG00000203871	ENST00000369572	.	.	.	1.69	1.69	0.24217	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.25185	N	0.990176	.	.	.	.	.	.	T	0.16689	-1.0394	4	.	.	.	.	6.8663	0.24094	0.0:0.0:1.0:0.0	.	.	.	.	A	55	.	.	G	+	2	0	C6orf164	88165871	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.751000	0.26348	1.274000	0.44362	0.411000	0.27672	GGA	C6orf164	-	NULL		0.537	C6orf164-001	KNOWN	basic|appris_principal	protein_coding	C6orf164	HGNC	protein_coding	OTTHUMT00000041437.2	G	NM_022084		88109152	+1	no_errors	ENST00000369572	ensembl	human	known	70_37	missense	SNP	0.002	C
C8G	733	genome.wustl.edu	37	9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642																																																	0													22.0	24.0	23.0					9																	139840549		2201	4298	6499	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.359G>A	9.37:g.139840549G>A	ENSP00000224181:p.Arg120Gln		Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.R120Q	ENST00000224181.3	37	c.359	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531948	0.45073	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.22336	2.84;1.96	4.15	2.21	0.28008	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.629773	0.15142	N	0.278225	T	0.24392	0.0591	M	0.72479	2.2	0.09310	N	1	D	0.71674	0.998	P	0.47786	0.557	T	0.14531	-1.0469	10	0.13470	T	0.59	-7.6118	7.2129	0.25943	0.0928:0.0:0.7377:0.1695	.	120	P07360	CO8G_HUMAN	Q	120	ENSP00000360697:R120Q;ENSP00000224181:R120Q	ENSP00000224181:R120Q	R	+	2	0	C8G	138960370	0.001000	0.12720	0.029000	0.17559	0.210000	0.24377	0.750000	0.26334	0.459000	0.27016	0.561000	0.74099	CGA	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.642	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	G			139840549	+1	no_errors	ENST00000224181	ensembl	human	known	70_37	missense	SNP	0.015	A
CACNA1B	774	genome.wustl.edu	37	9	140954116	140954116	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:140954116G>C	ENST00000371372.1	+	31	4740	c.4595G>C	c.(4594-4596)aGa>aCa	p.R1532T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1532T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1533T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R728T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1533T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1532T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1532					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTATTTCAGAGATGCCTGG	0.423																																																	0													174.0	167.0	169.0					9																	140954116		1894	4120	6014	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4595G>C	9.37:g.140954116G>C	ENSP00000360423:p.Arg1532Thr		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1533T	ENST00000371372.1	37	c.4598	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287521	0.59976	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.5	5.5	0.81552	.	0.048667	0.85682	D	0.000000	D	0.98880	0.9621	M	0.62088	1.915	0.53005	D	0.999961	B;D;D	0.76494	0.151;0.999;0.999	B;D;D	0.75020	0.046;0.985;0.985	D	0.99201	1.0873	10	0.40728	T	0.16	.	19.8114	0.96547	0.0:0.0:1.0:0.0	.	1532;1533;1532	B1AQK4;B1AQK7;B1AQK6	.;.;.	T	1532;1532;728;1532;1533;1533	ENSP00000360423:R1532T;ENSP00000277551:R1532T;ENSP00000277549:R728T;ENSP00000360414:R1532T;ENSP00000360408:R1533T;ENSP00000360406:R1533T	ENSP00000277549:R728T	R	+	2	0	CACNA1B	140073937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.764000	0.94973	0.555000	0.69702	AGA	CACNA1B	-	pfam_Ion_trans_dom		0.423	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140954116	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNA1F	778	genome.wustl.edu	37	X	49071932	49071932	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:49071932G>A	ENST00000376265.2	-	28	3402	c.3341C>T	c.(3340-3342)tCa>tTa	p.S1114L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S1103L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S1049L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1114	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGAACACTGAGATCTCCAC	0.512																																																	0													114.0	87.0	96.0					X																	49071932		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3341C>T	X.37:g.49071932G>A	ENSP00000365441:p.Ser1114Leu		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.S1114L	ENST00000376265.2	37	c.3341	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	24.0	4.480136	0.84747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98234	-4.81;-4.81;-4.81	4.61	4.61	0.57282	Ion transport (1);	0.147999	0.46442	D	0.000287	D	0.98419	0.9474	L	0.54965	1.715	0.49798	D	0.999827	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.95	D	0.99819	1.1046	10	0.87932	D	0	.	15.2896	0.73857	0.0:0.0:1.0:0.0	.	1103;1114	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1049;1103;1114	ENSP00000365427:S1049L;ENSP00000321618:S1103L;ENSP00000365441:S1114L	ENSP00000321618:S1103L	S	-	2	0	CACNA1F	48958876	1.000000	0.71417	0.890000	0.34922	0.924000	0.55760	9.576000	0.98192	2.114000	0.64651	0.597000	0.82753	TCA	CACNA1F	-	pfam_Ion_trans_dom		0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49071932	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA2D2	9254	genome.wustl.edu	37	3	50407782	50407782	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:50407782C>G	ENST00000479441.1	-	24	2034	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E603Q|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E672Q|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E679Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E679Q|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E672Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E672Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E672Q|XXcos-LUCA11.4_ENST00000606665.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	679					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCTTCAGACTCAAAGCTGCTG	0.637																																																	0													72.0	50.0	57.0					3																	50407782		2197	4292	6489	SO:0001583	missense	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2035G>C	3.37:g.50407782C>G	ENSP00000418081:p.Glu679Gln		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E679Q	ENST00000479441.1	37	c.2035	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101601	0.76983	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06371	3.31;3.33;3.33;3.34;3.31;3.33;3.33;3.32	4.57	4.57	0.56435	.	0.057159	0.64402	D	0.000002	T	0.23054	0.0557	M	0.71581	2.175	0.54753	D	0.999988	D;D	0.71674	0.997;0.998	P;D	0.69479	0.885;0.964	T	0.01232	-1.1411	10	0.34782	T	0.22	-21.6303	17.3264	0.87249	0.0:1.0:0.0:0.0	.	679;672	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Q	679;672;672;603;679;672;672;679	ENSP00000407393:E679Q;ENSP00000404631:E672Q;ENSP00000266039:E672Q;ENSP00000354228:E603Q;ENSP00000390526:E679Q;ENSP00000378519:E672Q;ENSP00000390329:E672Q;ENSP00000418081:E679Q	ENSP00000266039:E672Q	E	-	1	0	CACNA2D2	50382786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	2.252000	0.74401	0.563000	0.77884	GAG	CACNA2D2	-	NULL		0.637	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	C	NM_006030		50407782	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPRIN2	65981	genome.wustl.edu	37	12	30887963	30887963	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:30887963C>G	ENST00000395805.2	-	4	1295	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E250Q|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E250*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAGTCAAGTTCTTTTGAAGGC	0.373																																																	1	Substitution - Nonsense(1)	large_intestine(1)											169.0	167.0	168.0					12																	30887963		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.748G>C	12.37:g.30887963C>G	ENSP00000379150:p.Glu250Gln			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E250Q	ENST00000395805.2	37	c.748	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533139	0.64972	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	4.72	3.83	0.44106	.	0.378221	0.30011	N	0.010631	T	0.43411	0.1246	L	0.53249	1.67	0.80722	D	1	P;P;D;P;P	0.63880	0.841;0.901;0.993;0.878;0.841	B;P;P;B;B	0.56343	0.405;0.631;0.796;0.376;0.357	T	0.40924	-0.9537	10	0.62326	D	0.03	-7.3822	13.0598	0.59000	0.0:0.9222:0.0:0.0778	.	250;250;250;250;250	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	250;250;250;250;169;47;47;169	ENSP00000298892:E250Q;ENSP00000379150:E250Q;ENSP00000251071:E250Q;ENSP00000391479:E250Q;ENSP00000438010:E169Q;ENSP00000444137:E47Q;ENSP00000440785:E47Q;ENSP00000443353:E169Q	ENSP00000251071:E250Q	E	-	1	0	CAPRIN2	30779230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.681000	0.54648	1.205000	0.43262	0.591000	0.81541	GAA	CAPRIN2	-	NULL		0.373	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	C	NM_023925		30887963	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	missense	SNP	1.000	G
CARD14	79092	genome.wustl.edu	37	17	78166351	78166351	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:78166351G>C	ENST00000573882.1	+	11	1825	c.1289G>C	c.(1288-1290)cGg>cCg	p.R430P	CARD14_ENST00000392434.2_Missense_Mutation_p.R193P|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.R430P|CARD14_ENST00000570421.1_Missense_Mutation_p.R430P			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	430					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)			GAGAAGCAGCGGCTGGTGCGG	0.632																																																	0													53.0	53.0	53.0					17																	78166351		2203	4300	6503	SO:0001583	missense	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.1289G>C	17.37:g.78166351G>C	ENSP00000458715:p.Arg430Pro		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.R430P	ENST00000573882.1	37	c.1289	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451633	0.43531	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.33438	1.41;1.41	3.64	3.64	0.41730	.	0.412733	0.19215	U	0.119837	T	0.44074	0.1276	M	0.64997	1.995	0.34153	D	0.667712	P;D;P	0.53151	0.929;0.958;0.929	P;P;B	0.55965	0.524;0.788;0.324	T	0.57499	-0.7801	10	0.38643	T	0.18	-32.4395	12.3273	0.55018	0.0:0.0:1.0:0.0	.	430;193;430	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	P	430;193;193	ENSP00000344549:R430P;ENSP00000376229:R193P	ENSP00000308507:R193P	R	+	2	0	CARD14	75780946	0.991000	0.36638	1.000000	0.80357	0.509000	0.34042	0.516000	0.22817	1.854000	0.53819	0.561000	0.74099	CGG	CARD14	-	NULL		0.632	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	G			78166351	+1	no_errors	ENST00000344227	ensembl	human	known	70_37	missense	SNP	0.998	C
CCDC12	151903	genome.wustl.edu	37	3	47018170	47018170	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:47018170C>T	ENST00000546280.1	-	1	100	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	CCDC12_ENST00000425441.1_Missense_Mutation_p.R31Q|CCDC12_ENST00000605358.1_5'Flank|CCDC12_ENST00000292314.2_Missense_Mutation_p.R31Q	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	18										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CCGTTCCTTTCGCCGCAACGC	0.647																																																	0													87.0	67.0	74.0					3																	47018170		2203	4300	6503	SO:0001583	missense	151903			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.53G>A	3.37:g.47018170C>T	ENSP00000441327:p.Arg18Gln		Q8N8I4	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf18	p.R31Q	ENST00000546280.1	37	c.92		3	.	.	.	.	.	.	.	.	.	.	C	36	5.637194	0.96693	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.52	5.52	0.82312	.	0.127262	0.56097	D	0.000036	D	0.85948	0.5816	M	0.94101	3.495	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.992	D	0.88736	0.3240	9	0.87932	D	0	-17.2033	14.8084	0.69974	0.0:1.0:0.0:0.0	.	18;18;18	B4DID2;B4DZZ9;Q8WUD4	.;.;CCD12_HUMAN	Q	31;31;18;31	.	ENSP00000292314:R31Q	R	-	2	0	CCDC12	46993174	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	3.560000	0.53763	2.873000	0.98535	0.563000	0.77884	CGA	CCDC12	-	pfam_mRNA_splic_Cwf18		0.647	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		C	NM_144716		47018170	-1	no_errors	ENST00000292314	ensembl	human	known	70_37	missense	SNP	0.989	T
CCDC141	285025	genome.wustl.edu	37	2	179698970	179698970	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:179698970C>G	ENST00000420890.2	-	24	4640	c.4523G>C	c.(4522-4524)aGa>aCa	p.R1508T	CCDC141_ENST00000480419.1_5'UTR|RNU7-104P_ENST00000459398.1_RNA	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	0										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTTTACTCTTGTGATTGG	0.512																																																	0																																										SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4523G>C	2.37:g.179698970C>G	ENSP00000395995:p.Arg1508Thr		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R1508T	ENST00000420890.2	37	c.4523		2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263863	0.39995	.	.	ENSG00000163492	ENST00000420890	T	0.45276	0.9	5.95	5.08	0.68730	.	.	.	.	.	T	0.55625	0.1932	M	0.71206	2.165	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.60311	-0.7288	9	0.72032	D	0.01	.	10.9869	0.47526	0.0:0.8589:0.0:0.1411	.	933	Q6ZP82-2	.	T	1508	ENSP00000395995:R1508T	ENSP00000395995:R1508T	R	-	2	0	CCDC141	179407215	0.998000	0.40836	0.974000	0.42286	0.663000	0.39108	1.643000	0.37217	1.522000	0.49001	0.650000	0.86243	AGA	CCDC141	-	NULL		0.512	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		C	NM_173648		179698970	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	0.987	G
CCDC158	339965	genome.wustl.edu	37	4	77288626	77288626	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:77288626C>T	ENST00000388914.3	-	11	1803	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	551										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGAGGGCCTCACATTCTGTC	0.502																																																	0													108.0	103.0	104.0					4																	77288626		1968	4168	6136	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1651G>A	4.37:g.77288626C>T	ENSP00000373566:p.Glu551Lys		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E551K	ENST00000388914.3	37	c.1651	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600742	0.46423	.	.	ENSG00000163749	ENST00000388914	T	0.43688	0.94	5.95	5.95	0.96441	.	0.070562	0.52532	D	0.000071	T	0.30198	0.0757	N	0.24115	0.695	0.80722	D	1	P	0.39480	0.675	B	0.33454	0.164	T	0.04796	-1.0926	10	0.32370	T	0.25	.	18.1671	0.89732	0.0:1.0:0.0:0.0	.	551	Q5M9N0	CD158_HUMAN	K	551	ENSP00000373566:E551K	ENSP00000373566:E551K	E	-	1	0	CCDC158	77507650	0.999000	0.42202	0.971000	0.41717	0.577000	0.36160	5.167000	0.64972	2.826000	0.97356	0.563000	0.77884	GAG	CCDC158	-	superfamily_Prefoldin		0.502	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	C	NM_001042784		77288626	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	0.997	T
CCDC79	283847	genome.wustl.edu	37	16	66822113	66822113	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:66822113C>G	ENST00000558713.2	-	5	431	c.359G>C	c.(358-360)aGa>aCa	p.R120T	CCDC79_ENST00000415744.1_Missense_Mutation_p.R120T|CCDC79_ENST00000432602.1_Missense_Mutation_p.R120T|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433574.1_Missense_Mutation_p.R120T|CCDC79_ENST00000433154.1_Missense_Mutation_p.R120T			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	120					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						AACAGACATTCTTTTCAAATT	0.279																																																	0													36.0	32.0	34.0					16																	66822113		692	1581	2273	SO:0001583	missense	283847			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.359G>C	16.37:g.66822113C>G	ENSP00000462883:p.Arg120Thr		A0AUW1	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.R120T	ENST00000558713.2	37	c.359		16	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978695	0.34942	.	.	ENSG00000177461	ENST00000433154;ENST00000432602;ENST00000433574;ENST00000415744	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.46	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.68952	2.095	0.37667	D	0.922997	P;D	0.89917	0.714;1.0	B;D	0.71870	0.404;0.975	T	0.51585	-0.8687	10	0.49607	T	0.09	-19.246	15.35	0.74376	0.1402:0.8598:0.0:0.0	.	120;120	Q8NA31;Q8NA31-2	CCD79_HUMAN;.	T	120	ENSP00000463762:R120T;ENSP00000462977:R120T;ENSP00000462037:R120T;ENSP00000462236:R120T	ENSP00000440822:R120T	R	-	2	0	CCDC79	65379614	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.392000	0.52537	2.710000	0.92621	0.655000	0.94253	AGA	CCDC79	-	superfamily_ARM-type_fold		0.279	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	C			66822113	-1	no_errors	ENST00000433154	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC81	60494	genome.wustl.edu	37	11	86126335	86126335	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:86126335G>C	ENST00000445632.2	+	13	1943	c.1671G>C	c.(1669-1671)atG>atC	p.M557I	CCDC81_ENST00000528728.1_Missense_Mutation_p.M292I|CCDC81_ENST00000354755.1_Missense_Mutation_p.M467I|CCDC81_ENST00000278487.3_Missense_Mutation_p.M292I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	557										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATTTGCAAATGCTTCAGAGGA	0.483																																																	0													66.0	67.0	66.0					11																	86126335		2202	4299	6501	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1671G>C	11.37:g.86126335G>C	ENSP00000415528:p.Met557Ile		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.M557I	ENST00000445632.2	37	c.1671	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851169	0.71719	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.56	4.62	0.57501	.	0.326334	0.36374	N	0.002638	T	0.53126	0.1777	M	0.74258	2.255	0.35566	D	0.805108	D;D;D	0.64830	0.992;0.969;0.994	P;P;D	0.63488	0.675;0.825;0.915	T	0.66208	-0.5981	9	.	.	.	-10.3624	15.0768	0.72082	0.0:0.1431:0.8569:0.0	.	292;557;467	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	467;292;557;292	ENSP00000346800:M467I;ENSP00000278487:M292I;ENSP00000415528:M557I;ENSP00000437165:M292I	.	M	+	3	0	CCDC81	85803983	1.000000	0.71417	0.986000	0.45419	0.806000	0.45545	4.019000	0.57181	1.279000	0.44446	0.650000	0.86243	ATG	CCDC81	-	NULL		0.483	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	G	NM_021827		86126335	+1	no_errors	ENST00000445632	ensembl	human	known	70_37	missense	SNP	1.000	C
CD40LG	959	genome.wustl.edu	37	X	135730506	135730506	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:135730506C>G	ENST00000370629.2	+	1	155	c.99C>G	c.(97-99)atC>atG	p.I33M	CD40LG_ENST00000370628.2_Missense_Mutation_p.I33M	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	33					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TTTTTCTTATCACCCAGATGA	0.408									Immune Deficiency with Hyper-IgM																																								0													167.0	159.0	162.0					X																	135730506		2203	4300	6503	SO:0001583	missense	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.99C>G	X.37:g.135730506C>G	ENSP00000359663:p.Ile33Met			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.I33M	ENST00000370629.2	37	c.99	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	c	14.53	2.563974	0.45694	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.79554	-1.28;-1.28	5.7	1.41	0.22369	.	0.209094	0.41500	D	0.000864	T	0.79040	0.4379	L	0.27053	0.805	0.24669	N	0.993422	D;D	0.76494	0.999;0.998	D;D	0.64506	0.915;0.926	T	0.69628	-0.5094	10	0.72032	D	0.01	-11.7035	8.1105	0.30911	0.0:0.5956:0.0:0.4044	.	33;33	Q3L8U2;P29965	.;CD40L_HUMAN	M	33	ENSP00000359663:I33M;ENSP00000359662:I33M	ENSP00000359662:I33M	I	+	3	3	CD40LG	135558172	0.999000	0.42202	0.993000	0.49108	0.991000	0.79684	0.378000	0.20569	0.196000	0.20367	-0.195000	0.12781	ATC	CD40LG	-	pirsf_TNF_ligand_5,prints_TNF_ligand_5		0.408	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	C	NM_000074		135730506	+1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	0.921	G
CDH6	1004	genome.wustl.edu	37	5	31317953	31317953	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:31317953G>A	ENST00000265071.2	+	11	2069	c.1804G>A	c.(1804-1806)Gcg>Acg	p.A602T	CDH6_ENST00000514738.1_Missense_Mutation_p.A547T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCTGCCATGCGGAGGCGCT	0.577																																																	0													61.0	55.0	57.0					5																	31317953		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1804G>A	5.37:g.31317953G>A	ENSP00000265071:p.Ala602Thr		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A602T	ENST00000265071.2	37	c.1804	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154855	0.57259	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58358	0.48;0.34	5.29	5.29	0.74685	Cadherin (1);	0.105878	0.64402	D	0.000006	T	0.48943	0.1528	L	0.46567	1.45	0.58432	D	0.999997	B;P	0.38535	0.26;0.635	B;B	0.38020	0.081;0.263	T	0.40440	-0.9563	10	0.21540	T	0.41	.	19.3089	0.94177	0.0:0.0:1.0:0.0	.	602;602	P55285;P55285-2	CADH6_HUMAN;.	T	547;602	ENSP00000424843:A547T;ENSP00000265071:A602T	ENSP00000265071:A602T	A	+	1	0	CDH6	31353710	1.000000	0.71417	0.714000	0.30535	0.980000	0.70556	5.366000	0.66122	2.625000	0.88918	0.655000	0.94253	GCG	CDH6	-	pfscan_Cadherin		0.577	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	G	NM_004932		31317953	+1	no_errors	ENST00000265071	ensembl	human	known	70_37	missense	SNP	0.994	A
CDH8	1006	genome.wustl.edu	37	16	61747856	61747856	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:61747856G>C	ENST00000577390.1	-	10	2497	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.Q515E|CDH8_ENST00000577730.1_Missense_Mutation_p.Q515E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTAACAGTTTGAATGACCTGA	0.398																																																	0													133.0	137.0	136.0					16																	61747856		2202	4300	6502	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1543C>G	16.37:g.61747856G>C	ENSP00000462701:p.Gln515Glu		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S474*	ENST00000577390.1	37	c.1421	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	43	10.364328	0.99391	.	.	ENSG00000150394	ENST00000299345	T	0.01665	4.7	6.07	6.07	0.98685	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	L	0.43598	1.365	0.80722	D	1	P	0.47604	0.898	P	0.58620	0.842	T	0.15809	-1.0424	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	515	P55286	CADH8_HUMAN	E	515	ENSP00000299345:Q515E	ENSP00000299345:Q515E	Q	-	1	0	CDH8	60305357	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.961000	0.93122	2.885000	0.99019	0.655000	0.94253	CAA	CDH8	-	smart_Cadherin		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61747856	-1	no_errors	ENST00000585315	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CDH9	1007	genome.wustl.edu	37	5	26885933	26885933	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:26885933G>A	ENST00000231021.4	-	11	1844	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTTTGTTGCGACTGTAGCCA	0.383																																					Melanoma(8;187 585 15745 40864 52829)												0													65.0	64.0	64.0					5																	26885933		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1672C>T	5.37:g.26885933G>A	ENSP00000231021:p.Arg558Cys		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R558C	ENST00000231021.4	37	c.1672	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447644	0.84101	.	.	ENSG00000113100	ENST00000231021	T	0.59772	0.24	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.82444	0.5038	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	D	0.86801	0.1992	9	.	.	.	.	13.5557	0.61757	0.0:0.0:0.8443:0.1557	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	C	558	ENSP00000231021:R558C	.	R	-	1	0	CDH9	26921690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.494000	0.66905	2.740000	0.93945	0.563000	0.77884	CGC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	G	NM_016279		26885933	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	missense	SNP	1.000	A
CDHR1	92211	genome.wustl.edu	37	10	85968517	85968517	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:85968517G>A	ENST00000372117.3	+	12	1303	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	CDHR1_ENST00000332904.3_Silent_p.V400V|CDHR1_ENST00000440770.2_Silent_p.V159V	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCAGCTGGTGGGACCCAGGG	0.438																																																	0													80.0	78.0	78.0					10																	85968517		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1200G>A	10.37:g.85968517G>A			Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V400	ENST00000372117.3	37	c.1200	CCDS7372.1	10																																																																																			CDHR1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	G	NM_033100		85968517	+1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	1.000	A
CDK2	1017	genome.wustl.edu	37	12	56365402	56365402	+	Missense_Mutation	SNP	G	G	A	rs201353858		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:56365402G>A	ENST00000266970.4	+	7	1130	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	CDK2_ENST00000556656.1_3'UTR|RAB5B_ENST00000448789.2_5'Flank|CDK2_ENST00000553376.1_Missense_Mutation_p.R345Q|RAB5B_ENST00000553116.1_5'Flank|CDK2_ENST00000440311.2_Missense_Mutation_p.R237Q|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.R263Q	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CCCCATCTTCGACTCTGATAG	0.567																																																	0													113.0	100.0	104.0					12																	56365402		2203	4300	6503	SO:0001583	missense	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.890G>A	12.37:g.56365402G>A	ENSP00000266970:p.Arg297Gln		A8K7C6|O75100	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R297Q	ENST00000266970.4	37	c.890	CCDS8898.1	12	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528440	0.64860	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.71222	-0.48;-0.55;-0.14;-0.12	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.202809	0.35207	N	0.003373	T	0.58409	0.2120	L	0.29908	0.895	0.41281	D	0.986918	B;B;B	0.31837	0.342;0.109;0.172	B;B;B	0.19148	0.016;0.024;0.006	T	0.62025	-0.6941	10	0.59425	D	0.04	-1.3927	16.4009	0.83640	0.0:0.0:1.0:0.0	.	237;263;297	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	Q	297;345;237;263	ENSP00000266970:R297Q;ENSP00000452514:R345Q;ENSP00000393605:R237Q;ENSP00000243067:R263Q	ENSP00000266970:R297Q	R	+	2	0	CDK2	54651669	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	8.596000	0.90844	2.688000	0.91661	0.591000	0.81541	CGA	CDK2	-	superfamily_Kinase-like_dom		0.567	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	G			56365402	+1	no_errors	ENST00000266970	ensembl	human	known	70_37	missense	SNP	0.999	A
CDKL2	8999	genome.wustl.edu	37	4	76522182	76522182	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:76522182G>A	ENST00000429927.2	-	9	1962	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F	CDKL2_ENST00000307465.4_Missense_Mutation_p.S420F	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	420					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGCAACTGCAGAAAGATTGTG	0.418																																																	0													197.0	181.0	186.0					4																	76522182		2203	4300	6503	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1259C>T	4.37:g.76522182G>A	ENSP00000412365:p.Ser420Phe		B2R695	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S420F	ENST00000429927.2	37	c.1259	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503430	0.64298	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.73047	0.83;-0.71	4.74	4.74	0.60224	.	.	.	.	.	T	0.76054	0.3934	L	0.32530	0.975	0.36788	D	0.884674	D;D	0.76494	0.998;0.999	P;D	0.69142	0.897;0.962	T	0.81760	-0.0785	9	0.87932	D	0	-21.1726	14.7442	0.69477	0.0:0.0:1.0:0.0	.	420;420	B4DH08;Q92772	.;CDKL2_HUMAN	F	420	ENSP00000412365:S420F;ENSP00000306340:S420F	ENSP00000306340:S420F	S	-	2	0	CDKL2	76741206	0.974000	0.33945	0.999000	0.59377	0.677000	0.39632	5.053000	0.64269	2.443000	0.82685	0.591000	0.81541	TCT	CDKL2	-	NULL		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76522182	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	missense	SNP	0.999	A
CDX2	1045	genome.wustl.edu	37	13	28539078	28539078	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:28539078G>A	ENST00000381020.7	-	2	2748	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	206					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CGACTGTAGTGAAACTCCTTC	0.602			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													80.0	68.0	72.0					13																	28539078		2203	4300	6503	SO:0001583	missense	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.616C>T	13.37:g.28539078G>A	ENSP00000370408:p.His206Tyr		O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.H206Y	ENST00000381020.7	37	c.616	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.787604	0.96945	.	.	ENSG00000165556	ENST00000381020	D	0.96041	-3.89	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.95576	0.8562	L	0.39245	1.2	0.80722	D	1	B	0.32893	0.389	P	0.46208	0.507	D	0.94967	0.8113	10	0.87932	D	0	-46.7372	19.798	0.96494	0.0:0.0:1.0:0.0	.	206	Q99626	CDX2_HUMAN	Y	206	ENSP00000370408:H206Y	ENSP00000370408:H206Y	H	-	1	0	CDX2	27437078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.795000	0.99099	2.677000	0.91161	0.563000	0.77884	CAC	CDX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.602	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	G			28539078	-1	no_errors	ENST00000381020	ensembl	human	known	70_37	missense	SNP	1.000	A
CELA2A	63036	genome.wustl.edu	37	1	15789917	15789917	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:15789917C>T	ENST00000359621.4	+	5	418	c.393C>T	c.(391-393)gtC>gtT	p.V131V		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTAACCCCGTCTCCCTCACCG	0.607																																																	0													179.0	135.0	150.0					1																	15789917		2203	4298	6501	SO:0001819	synonymous_variant	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.393C>T	1.37:g.15789917C>T			B2R5I4|Q14243	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V131	ENST00000359621.4	37	c.393	CCDS157.1	1																																																																																			CELA2A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.607	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	C	NM_033440		15789917	+1	no_errors	ENST00000359621	ensembl	human	known	70_37	silent	SNP	0.289	T
CELF5	60680	genome.wustl.edu	37	19	3224933	3224933	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:3224933G>C	ENST00000292672.2	+	1	233	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	CELF5_ENST00000541430.2_Missense_Mutation_p.E66Q	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCGCTCTTCGAGCAGTTCGG	0.672																																																	0													20.0	19.0	20.0					19																	3224933		2203	4295	6498	SO:0001583	missense	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.196G>C	19.37:g.3224933G>C	ENSP00000292672:p.Glu66Gln		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E66Q	ENST00000292672.2	37	c.196	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968422	0.53614	.	.	ENSG00000161082	ENST00000292672;ENST00000541430	T;T	0.17213	2.29;2.29	1.21	1.21	0.21127	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.515051	0.14564	U	0.311891	T	0.27559	0.0677	L	0.41356	1.27	0.43195	D	0.995037	D;D	0.89917	0.999;1.0	D;D	0.72338	0.939;0.977	T	0.04400	-1.0954	10	0.59425	D	0.04	.	7.9211	0.29846	0.0:0.0:1.0:0.0	.	66;66	Q8N6W0-2;Q8N6W0	.;CELF5_HUMAN	Q	66	ENSP00000292672:E66Q;ENSP00000443498:E66Q	ENSP00000292672:E66Q	E	+	1	0	CELF5	3175933	1.000000	0.71417	0.984000	0.44739	0.473000	0.32948	8.163000	0.89659	0.617000	0.30160	0.163000	0.16589	GAG	CELF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.672	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	G	NM_021938		3224933	+1	no_errors	ENST00000292672	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	180062302	180062302	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:180062302G>C	ENST00000367607.3	+	34	7480	c.7062G>C	c.(7060-7062)aaG>aaC	p.K2354N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2354					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACGAACAAAAGAACACAAAGG	0.343																																																	0													34.0	33.0	34.0					1																	180062302		2201	4296	6497	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7062G>C	1.37:g.180062302G>C	ENSP00000356579:p.Lys2354Asn		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K2354N	ENST00000367607.3	37	c.7062	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.009165|2.009165	0.35415|0.35415	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.58358	.|0.34	5.93|5.93	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.45867	.|D	.|0.000324	T|T	0.33702|0.33702	0.0872|0.0872	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39665	.|0.682;0.501	.|B;B	.|0.35550	.|0.205;0.109	T|T	0.23904|0.23904	-1.0175|-1.0175	5|9	.|.	.|.	.|.	.|.	3.3078|3.3078	0.07006|0.07006	0.1035:0.1367:0.5339:0.226|0.1035:0.1367:0.5339:0.226	.|.	.|2354;2354	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Q|N	529|2354	.|ENSP00000356579:K2354N	.|.	E|K	+|+	1|3	0|2	CEP350|CEP350	178328925|178328925	0.998000|0.998000	0.40836|0.40836	0.652000|0.652000	0.29579|0.29579	0.789000|0.789000	0.44602|0.44602	0.966000|0.966000	0.29331|0.29331	1.247000|1.247000	0.43917|0.43917	0.650000|0.650000	0.86243|0.86243	GAA|AAG	CEP350	-	NULL		0.343	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180062302	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.361	C
CGN	57530	genome.wustl.edu	37	1	151491199	151491199	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151491199C>G	ENST00000271636.7	+	2	337	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	62	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTGGTGCTCAACAGTGGGG	0.592																																																	0													82.0	84.0	83.0					1																	151491199		2203	4300	6503	SO:0001819	synonymous_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.204C>G	1.37:g.151491199C>G			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.L68	ENST00000271636.7	37	c.204	CCDS999.1	1																																																																																			CGN	-	NULL		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151491199	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	silent	SNP	0.994	G
CEP350	9857	genome.wustl.edu	37	1	180063347	180063347	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:180063347G>C	ENST00000367607.3	+	34	8525	c.8107G>C	c.(8107-8109)Gag>Cag	p.E2703Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2703					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTTACAGAAGAGGAAGACAA	0.413																																																	0													41.0	41.0	41.0					1																	180063347		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8107G>C	1.37:g.180063347G>C	ENSP00000356579:p.Glu2703Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2703Q	ENST00000367607.3	37	c.8107	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.073|0.073	-1.198114|-1.198114	0.01594|0.01594	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.58210|.	0.35|.	5.73|5.73	-4.3|-4.3	0.03710|0.03710	.|.	1.451680|.	0.04435|.	N|.	0.369894|.	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.33059|0.33059	-0.9883|-0.9883	9|5	.|.	.|.	.|.	.|.	9.4226|9.4226	0.38561|0.38561	0.4087:0.1155:0.4759:0.0|0.4087:0.1155:0.4759:0.0	.|.	2703;2703|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|T	2703;167|877	ENSP00000356579:E2703Q|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178329970|178329970	0.982000|0.982000	0.34865|0.34865	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.346000|0.346000	0.19997|0.19997	-0.717000|-0.717000	0.04955|0.04955	-1.641000|-1.641000	0.00772|0.00772	GAG|AGA	CEP350	-	NULL		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180063347	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	0.001	C
CHD6	84181	genome.wustl.edu	37	20	40043882	40043882	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:40043882C>T	ENST00000373233.3	-	34	7060	c.6883G>A	c.(6883-6885)Gaa>Aaa	p.E2295K	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2295					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCCCTCCTTCAACATGTTTC	0.488																																																	0													143.0	128.0	133.0					20																	40043882		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6883G>A	20.37:g.40043882C>T	ENSP00000362330:p.Glu2295Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2295K	ENST00000373233.3	37	c.6883	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611463	0.87258	.	.	ENSG00000124177	ENST00000373233	D	0.92595	-3.07	6.16	6.16	0.99307	.	0.099264	0.44285	D	0.000463	D	0.91157	0.7215	M	0.64404	1.975	0.80722	D	1	P	0.40050	0.7	B	0.34991	0.193	D	0.91255	0.5032	10	0.87932	D	0	-17.343	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2295	Q8TD26	CHD6_HUMAN	K	2295	ENSP00000362330:E2295K	ENSP00000362330:E2295K	E	-	1	0	CHD6	39477296	1.000000	0.71417	0.967000	0.41034	0.963000	0.63663	7.260000	0.78391	2.937000	0.99478	0.650000	0.86243	GAA	CHD6	-	NULL		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40043882	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T
CHIC1	53344	genome.wustl.edu	37	X	72901147	72901147	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:72901147G>C	ENST00000373502.5	+	0	1059				CHIC1_ENST00000373504.6_3'UTR	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1							cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AACTTGTTCTGAGCATGCTGC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	53344			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.*307G>C	X.37:g.72901147G>C			A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	RNA	SNP	-	NULL	ENST00000373502.5	37	NULL	CCDS35335.2	X																																																																																			CHIC1	-	-		0.323	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	G			72901147	+1	no_errors	ENST00000498318	ensembl	human	known	70_37	rna	SNP	1.000	C
CHL1	10752	genome.wustl.edu	37	3	369910	369910	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:369910G>A	ENST00000256509.2	+	5	900	c.258G>A	c.(256-258)tcG>tcA	p.S86S	CHL1_ENST00000397491.2_Silent_p.S86S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAATTCCATCGAACAATTCAG	0.378																																																	0													137.0	132.0	134.0					3																	369910		2203	4299	6502	SO:0001819	synonymous_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.258G>A	3.37:g.369910G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	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.S86	ENST00000256509.2	37	c.258	CCDS2556.1	3																																																																																			CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	G	NM_006614		369910	+1	no_errors	ENST00000256509	ensembl	human	known	70_37	silent	SNP	0.004	A
CHRM1	1128	genome.wustl.edu	37	11	62678196	62678196	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:62678196G>T	ENST00000306960.3	-	2	918	c.377C>A	c.(376-378)tCc>tAc	p.S126Y	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	126					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CCGAGTCACGGAGAAGTAGCG	0.632																																																	0													54.0	52.0	53.0					11																	62678196		2201	4298	6499	SO:0001583	missense	1128			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.377C>A	11.37:g.62678196G>T	ENSP00000306490:p.Ser126Tyr		Q96RH1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.S126Y	ENST00000306960.3	37	c.377	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800902	0.70567	.	.	ENSG00000168539	ENST00000306960;ENST00000543973;ENST00000536524	T;T;T	0.38401	1.14;1.14;1.14	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.55369	0.1916	L	0.56199	1.76	0.50171	D	0.999859	D	0.76494	0.999	D	0.83275	0.996	T	0.57700	-0.7766	10	0.72032	D	0.01	-17.1125	15.321	0.74120	0.0:0.0:1.0:0.0	.	126	P11229	ACM1_HUMAN	Y	126	ENSP00000306490:S126Y;ENSP00000441188:S126Y;ENSP00000444482:S126Y	ENSP00000306490:S126Y	S	-	2	0	CHRM1	62434772	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	3.910000	0.56371	2.483000	0.83821	0.563000	0.77884	TCC	CHRM1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn		0.632	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	G	NM_000738		62678196	-1	no_errors	ENST00000306960	ensembl	human	known	70_37	missense	SNP	1.000	T
CITED1	4435	genome.wustl.edu	37	X	71521706	71521706	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:71521706G>A	ENST00000246139.5	-	3	1024	c.449C>T	c.(448-450)tCg>tTg	p.S150L	CITED1_ENST00000373619.3_Missense_Mutation_p.S150L|CITED1_ENST00000445983.1_Missense_Mutation_p.S150L|CITED1_ENST00000431381.1_Missense_Mutation_p.S176L	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	150	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S150L(1)		skin(1)	1	Renal(35;0.156)					CACTGGGTCCGAATCGATGAT	0.602																																																	1	Substitution - Missense(1)	skin(1)											79.0	66.0	70.0					X																	71521706		2203	4300	6503	SO:0001583	missense	4435			U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.449C>T	X.37:g.71521706G>A	ENSP00000246139:p.Ser150Leu		B5BU50|B5BUI2	Missense_Mutation	SNP	pfam_CITED	p.S176L	ENST00000246139.5	37	c.527	CCDS14419.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.280873|2.280873	0.40394|0.40394	.|.	.|.	ENSG00000125931|ENSG00000125931	ENST00000429794|ENST00000453707;ENST00000431381;ENST00000445983;ENST00000373619;ENST00000246139	.|T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0	5.64|5.64	3.86|3.86	0.44501|0.44501	.|.	.|0.079753	.|0.51477	.|D	.|0.000087	T|T	0.44393|0.44393	0.1291|0.1291	L|L	0.48362|0.48362	1.52|1.52	0.34714|0.34714	D|D	0.728089|0.728089	.|P;P	.|0.41450	.|0.75;0.467	.|B;B	.|0.28465	.|0.09;0.089	T|T	0.55964|0.55964	-0.8057|-0.8057	5|10	.|0.56958	.|D	.|0.05	-8.8008|-8.8008	4.8597|4.8597	0.13577|0.13577	0.1791:0.0:0.6491:0.1718|0.1791:0.0:0.6491:0.1718	.|.	.|176;150	.|Q99966-2;Q99966	.|.;CITE1_HUMAN	W|L	63|176;176;150;150;150	.|ENSP00000401764:S176L;ENSP00000388548:S176L;ENSP00000403274:S150L;ENSP00000362721:S150L;ENSP00000246139:S150L	.|ENSP00000246139:S150L	R|S	-|-	1|2	2|0	CITED1|CITED1	71438431|71438431	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.205000|0.205000	0.24178|0.24178	3.246000|3.246000	0.51414|0.51414	0.544000|0.544000	0.28883|0.28883	-0.237000|-0.237000	0.12165|0.12165	CGG|TCG	CITED1	-	pfam_CITED		0.602	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CITED1	HGNC	protein_coding	OTTHUMT00000057181.1	G	NM_004143		71521706	-1	no_errors	ENST00000431381	ensembl	human	known	70_37	missense	SNP	0.713	A
CLASP2	23122	genome.wustl.edu	37	3	33638217	33638217	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:33638217G>C	ENST00000468888.2	-	19	1983	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	CLASP2_ENST00000307312.7_Missense_Mutation_p.S134C|CLASP2_ENST00000480013.1_Missense_Mutation_p.S412C|CLASP2_ENST00000359576.5_Missense_Mutation_p.S645C|CLASP2_ENST00000399362.4_Missense_Mutation_p.S645C|CLASP2_ENST00000461133.3_Missense_Mutation_p.S412C|CLASP2_ENST00000539981.1_Missense_Mutation_p.S397C			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	412					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGCTTGTCAGAAGTATCCTC	0.294																																																	0													21.0	20.0	21.0					3																	33638217		1796	4049	5845	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1937C>G	3.37:g.33638217G>C	ENSP00000419974:p.Ser646Cys		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S645C	ENST00000468888.2	37	c.1934		3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548809	0.86127	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.19250	2.16;2.17;2.19	5.72	5.72	0.89469	Armadillo-type fold (1);	0.169011	0.39759	N	0.001262	T	0.29389	0.0732	N	0.22421	0.69	0.40081	D	0.976131	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.01743	-1.1283	10	0.56958	D	0.05	-5.9498	18.4207	0.90590	0.0:0.0:1.0:0.0	.	412;645	O75122;F5H604	CLAP2_HUMAN;.	C	646;645;645;134;397;412;412	ENSP00000419974:S646C;ENSP00000382297:S645C;ENSP00000352581:S645C	ENSP00000304743:S134C	S	-	2	0	CLASP2	33613221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.585000	0.74062	2.857000	0.98124	0.650000	0.86243	TCT	CLASP2	-	superfamily_ARM-type_fold		0.294	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	G	NM_001207044		33638217	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	C
CLEC4C	170482	genome.wustl.edu	37	12	7882230	7882230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:7882230G>A	ENST00000542353.1	-	7	1094	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.Q171*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.Q171*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.Q202*	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTGACTTCTGAGGTACATGA	0.403																																																	0													128.0	116.0	120.0					12																	7882230		2203	4300	6503	SO:0001587	stop_gained	170482			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.604C>T	12.37:g.7882230G>A	ENSP00000440428:p.Gln202*		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q202*	ENST00000542353.1	37	c.604	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639338	0.67244	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	.	.	.	1.73	-0.446	0.12238	.	.	.	.	.	.	.	.	.	.	.	0.26149	N	0.98017	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.7796	0.08674	0.0:0.2746:0.446:0.2794	.	.	.	.	X	202;171;171;202	.	ENSP00000346648:Q171X	Q	-	1	0	CLEC4C	7773497	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	1.953000	0.40352	-0.121000	0.11787	-0.304000	0.09214	CAG	CLEC4C	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.403	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	G	NM_203503		7882230	-1	no_errors	ENST00000360345	ensembl	human	known	70_37	nonsense	SNP	0.000	A
CLOCK	9575	genome.wustl.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																																	2	Deletion - Frameshift(2)	ovary(1)|lung(1)											88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat	p.L123fs	ENST00000309964.4	37	c.368	CCDS3500.1	4																																																																																			CLOCK	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat		0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	HGNC	protein_coding	OTTHUMT00000361993.2	A	NM_004898		56336954	-1	no_errors	ENST00000309964	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
COL19A1	1310	genome.wustl.edu	37	6	70851961	70851961	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:70851961G>T	ENST00000322773.4	+	22	1667	c.1565G>T	c.(1564-1566)gGa>gTa	p.G522V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G144V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	522	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAAGCCCAGGACTAAAGGTA	0.393																																																	0													29.0	30.0	29.0					6																	70851961		2203	4297	6500	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1565G>T	6.37:g.70851961G>T	ENSP00000316030:p.Gly522Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G522V	ENST00000322773.4	37	c.1565	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151104	0.57151	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.53;-5.77	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.99753	0.9901	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97175	0.9847	10	0.72032	D	0.01	.	17.6549	0.88175	0.0:0.0:1.0:0.0	.	522	Q14993	COJA1_HUMAN	V	522;144	ENSP00000316030:G522V;ENSP00000377013:G144V	ENSP00000316030:G522V	G	+	2	0	COL19A1	70908682	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.899000	0.69846	2.666000	0.90696	0.655000	0.94253	GGA	COL19A1	-	NULL		0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70851961	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T
COL5A2	1290	genome.wustl.edu	37	2	189929375	189929375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:189929375G>A	ENST00000374866.3	-	25	1898	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	542					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CGTTCTCCTTGAGCACCCTGT	0.483																																																	0													49.0	52.0	51.0					2																	189929375		2203	4300	6503	SO:0001587	stop_gained	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1624C>T	2.37:g.189929375G>A	ENSP00000364000:p.Gln542*		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q542*	ENST00000374866.3	37	c.1624	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.948441	0.99014	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	.	.	.	X	542;182	.	.	Q	-	1	0	COL5A2	189637620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.788000	0.95919	0.585000	0.79938	CAA	COL5A2	-	NULL		0.483	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189929375	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CORO1C	23603	genome.wustl.edu	37	12	109051199	109051199	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:109051199C>T	ENST00000261401.3	-	6	803	c.631G>A	c.(631-633)Gag>Aag	p.E211K	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Splice_Site_p.E106K|CORO1C_ENST00000420959.2_Splice_Site_p.E264K|CORO1C_ENST00000541050.1_Splice_Site_p.E211K|CORO1C_ENST00000549772.1_Splice_Site_p.E217K	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	211					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TTCTCCTTCTCCTGGAGAGCA	0.527																																																	0													80.0	73.0	75.0					12																	109051199		2203	4300	6503	SO:0001630	splice_region_variant	23603			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.631-1G>A	12.37:g.109051199C>T			A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E264K	ENST00000261401.3	37	c.790	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637514	0.87760	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871	T;T;T;T;T;T	0.80824	5.07;5.07;5.07;5.07;5.07;-1.42	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047704	0.85682	D	0.000000	D	0.90452	0.7010	M	0.86740	2.835	0.80722	D	1	D;P;P	0.69078	0.997;0.751;0.727	D;B;B	0.66847	0.947;0.368;0.319	D	0.89673	0.3885	10	0.33141	T	0.24	-10.7931	18.8822	0.92360	0.0:1.0:0.0:0.0	.	174;264;211	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	K	211;211;106;217;264;106	ENSP00000261401:E211K;ENSP00000438341:E211K;ENSP00000415554:E106K;ENSP00000447534:E217K;ENSP00000394496:E264K;ENSP00000449658:E106K	ENSP00000261401:E211K	E	-	1	0	CORO1C	107575328	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.815000	0.86186	2.444000	0.82710	0.637000	0.83480	GAG	CORO1C	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.527	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	C	NM_014325	Missense_Mutation	109051199	-1	no_errors	ENST00000420959	ensembl	human	known	70_37	missense	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145624722	145624722	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:145624722C>G	ENST00000349769.3	-	14	1430	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	446					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGTACACTTCAATCTCGTCC	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													51.0	43.0	45.0					8																	145624722		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1336G>C	8.37:g.145624722C>G	ENSP00000339353:p.Glu446Gln		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E446Q	ENST00000349769.3	37	c.1336	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154658	0.57259	.	.	ENSG00000071894	ENST00000349769	T	0.47869	0.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.55213	1.73	0.80722	D	1	P	0.47604	0.898	P	0.53722	0.733	T	0.54596	-0.8270	10	0.41790	T	0.15	-16.0562	17.2513	0.87043	0.0:1.0:0.0:0.0	.	446	Q10570	CPSF1_HUMAN	Q	446	ENSP00000339353:E446Q	ENSP00000339353:E446Q	E	-	1	0	CPSF1	145595530	1.000000	0.71417	0.206000	0.23566	0.031000	0.12232	7.170000	0.77587	2.664000	0.90586	0.455000	0.32223	GAA	CPSF1	-	NULL		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624722	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	0.999	G
CR1L	1379	genome.wustl.edu	37	1	207881609	207881609	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:207881609G>A	ENST00000508064.2	+	10	1474		c.e10+1		CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTTGTCAACGtgagttgaaa	0.443																																																	0													242.0	230.0	234.0					1																	207881609		1898	4112	6010	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1414+1G>A	1.37:g.207881609G>A			Q32MC9|Q8NEU7	Splice_Site	SNP	-	e10+1	ENST00000508064.2	37	c.1414+1	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	g	9.840	1.190717	0.21954	.	.	ENSG00000197721	ENST00000508064	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.43110	D	0.994812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8536	0.24028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205948232	0.573000	0.26676	0.299000	0.25016	0.206000	0.24218	1.630000	0.37081	1.251000	0.43983	0.298000	0.19748	.	CR1L	-	-		0.443	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	G	XM_114735	Intron	207881609	+1	no_errors	ENST00000508064	ensembl	human	known	70_37	splice_site	SNP	0.444	A
CS	1431	genome.wustl.edu	37	12	56693956	56693956	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:56693956G>C	ENST00000351328.3	-	1	220	c.30C>G	c.(28-30)ctC>ctG	p.L10L	CS_ENST00000542324.2_5'UTR|RP11-977G19.10_ENST00000549318.1_Silent_p.L206L|RP11-977G19.11_ENST00000549860.1_RNA|CS_ENST00000548567.1_5'UTR|RP11-977G19.11_ENST00000549565.1_RNA	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	10					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TGGTTCCCAAGAGCCGGGCGG	0.701																																																	0													14.0	14.0	14.0					12																	56693956		2179	4271	6450	SO:0001819	synonymous_variant	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.30C>G	12.37:g.56693956G>C			Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.L10	ENST00000351328.3	37	c.30	CCDS8913.1	12																																																																																			CS	-	NULL		0.701	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	G	NM_004077		56693956	-1	no_errors	ENST00000351328	ensembl	human	known	70_37	silent	SNP	1.000	C
CTNNB1	1499	genome.wustl.edu	37	3	41279559	41279559	+	Missense_Mutation	SNP	G	G	A	rs200308943		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:41279559G>A	ENST00000349496.5	+	14	2409	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	CTNNB1_ENST00000453024.1_Missense_Mutation_p.R703H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R710H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R710H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R710H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	710					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTGGATATCGCCAGGATGGT	0.413		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		17744	0.0		0.001	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	229.0	218.0	222.0		2129,2129,2129	5.2	1.0	3		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CTNNB1	NM_001098209.1,NM_001098210.1,NM_001904.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	710/782,710/782,710/782	41279559	1,13005	2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2129G>A	3.37:g.41279559G>A	ENSP00000344456:p.Arg710His		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.R710H	ENST00000349496.5	37	c.2129	CCDS2694.1	3	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.75	3.466953	0.63625	0.0	1.16E-4	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	N	0.22421	0.69	0.80722	D	1	D;B	0.54772	0.968;0.011	B;B	0.41036	0.346;0.004	T	0.18967	-1.0320	10	0.33940	T	0.23	-5.8813	18.7623	0.91856	0.0:0.0:1.0:0.0	.	638;710	B4DSW9;P35222	.;CTNB1_HUMAN	H	710;710;710;703;710	ENSP00000385604:R710H;ENSP00000379486:R710H;ENSP00000344456:R710H;ENSP00000411226:R703H;ENSP00000379488:R710H	ENSP00000344456:R710H	R	+	2	0	CTNNB1	41254563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.445000	0.82738	0.591000	0.81541	CGC	CTNNB1	-	NULL		0.413	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	G	NM_001098210		41279559	+1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	A
CTSA	5476	genome.wustl.edu	37	20	44520238	44520240	+	In_Frame_Del	DEL	CTG	CTG	-	rs3080212|rs11468075|rs10582052|rs397784956|rs397839006	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:44520238_44520240delCTG	ENST00000372459.2	+	1	224_226	c.31_33delCTG	c.(31-33)ctgdel	p.L19del	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_In_Frame_Del_p.L37del|CTSA_ENST00000191018.5_In_Frame_Del_p.L19del|CTSA_ENST00000372484.3_In_Frame_Del_p.L37del|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	19				Missing (in Ref. 4; AAH00597). {ECO:0000305}.	glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.L29delL(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				gccgctgttcctgctgctgctgc	0.709														3252	0.649361	0.6868	0.7248	5008	,	,		16739	0.5784		0.6173	False		,,,				2504	0.6513																1	Deletion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.31_33delCTG	20.37:g.44520247_44520249delCTG	ENSP00000361537:p.Leu19del		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	In_Frame_Del	DEL	pfam_Peptidase_S10,prints_Peptidase_S10	p.L32in_frame_del	ENST00000372459.2	37	c.85_87	CCDS46609.1	20																																																																																			CTSA	-	NULL		0.709	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	CTG	NM_000308		44520240	+1	no_errors	ENST00000372484	ensembl	human	known	70_37	in_frame_del	DEL	0.155:0.311:0.361	-
CTTN	2017	genome.wustl.edu	37	11	70275181	70275181	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:70275181G>C	ENST00000301843.8	+	14	1258	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	CTTN_ENST00000538675.1_Missense_Mutation_p.R35T|CTTN_ENST00000376561.3_Missense_Mutation_p.R314T|CTTN_ENST00000346329.3_Missense_Mutation_p.R314T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	351					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGTAACATCAGAGCTAACTTT	0.567																																																	0													156.0	150.0	152.0					11																	70275181		2200	4294	6494	SO:0001583	missense	2017			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1052G>C	11.37:g.70275181G>C	ENSP00000301843:p.Arg351Thr		Q8N707|Q96H99	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.R351T	ENST00000301843.8	37	c.1052	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	g	17.82	3.483215	0.63962	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000527962;ENST00000498223;ENST00000538675;ENST00000529736	T;T;T;T;T;T;T	0.69175	1.38;1.39;1.3;0.39;-0.38;1.62;1.24	4.6	4.6	0.57074	.	0.111900	0.53938	D	0.000049	T	0.81791	0.4897	M	0.74647	2.275	0.42198	D	0.991756	D;P;D;D	0.89917	1.0;0.917;0.991;0.998	D;P;P;D	0.83275	0.996;0.584;0.821;0.954	D	0.84481	0.0605	10	0.62326	D	0.03	-12.3371	17.8382	0.88707	0.0:0.0:1.0:0.0	.	35;314;351;314	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	T	314;351;314;35;35;35;8	ENSP00000317189:R314T;ENSP00000301843:R351T;ENSP00000365745:R314T;ENSP00000433552:R35T;ENSP00000434669:R35T;ENSP00000439762:R35T;ENSP00000431421:R8T	ENSP00000301843:R351T	R	+	2	0	CTTN	69952829	1.000000	0.71417	0.412000	0.26496	0.674000	0.39518	5.989000	0.70587	2.287000	0.76781	0.651000	0.88453	AGA	CTTN	-	NULL		0.567	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	G	NM_138565		70275181	+1	no_errors	ENST00000301843	ensembl	human	known	70_37	missense	SNP	1.000	C
CTTNBP2	83992	genome.wustl.edu	37	7	117451012	117451012	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:117451012C>A	ENST00000160373.3	-	3	312	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	74					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTCCCATACCGTTCCTGGAT	0.408																																																	0													74.0	73.0	73.0					7																	117451012		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.221G>T	7.37:g.117451012C>A	ENSP00000160373:p.Arg74Leu		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R74L	ENST00000160373.3	37	c.221	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.366385	0.95900	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.62	5.62	0.85841	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74025	-0.3797	10	0.87932	D	0	0.4546	20.024	0.97514	0.0:1.0:0.0:0.0	.	74	Q8WZ74	CTTB2_HUMAN	L	74;32;32;32	ENSP00000160373:R74L;ENSP00000396014:R32L;ENSP00000405831:R32L;ENSP00000393373:R32L	ENSP00000160373:R74L	R	-	2	0	CTTNBP2	117238248	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.445000	0.80570	2.809000	0.96659	0.655000	0.94253	CGG	CTTNBP2	-	pfam_Cortactin-binding_p2_N		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	C	NM_033427		117451012	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	1.000	A
DAZAP1	26528	genome.wustl.edu	37	19	1430343	1430343	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:1430343G>A	ENST00000233078.4	+	10	1014	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	DAZAP1_ENST00000336761.6_Missense_Mutation_p.G285S	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	285	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGGCTACGGTGCCCCGCC	0.677																																																	0													13.0	15.0	15.0					19																	1430343		2191	4277	6468	SO:0001583	missense	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.853G>A	19.37:g.1430343G>A	ENSP00000233078:p.Gly285Ser		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G285S	ENST00000233078.4	37	c.853	CCDS12065.1	19	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642796	0.29246	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.37058	1.22;1.27	4.99	4.99	0.66335	.	0.140959	0.64402	D	0.000004	T	0.16557	0.0398	N	0.01874	-0.695	0.40397	D	0.979615	B;B;B;B	0.23490	0.012;0.012;0.086;0.021	B;B;B;B	0.12837	0.002;0.002;0.008;0.003	T	0.10613	-1.0622	10	0.25751	T	0.34	.	16.8118	0.85722	0.0:0.0:1.0:0.0	.	352;285;285;51	Q5IRN4;Q96EP5;Q96EP5-2;B3KS63	.;DAZP1_HUMAN;.;.	S	285	ENSP00000233078:G285S;ENSP00000337132:G285S	ENSP00000233078:G285S	G	+	1	0	DAZAP1	1381343	1.000000	0.71417	0.535000	0.28026	0.620000	0.37586	5.864000	0.69575	2.319000	0.78375	0.555000	0.69702	GGT	DAZAP1	-	NULL		0.677	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP1	HGNC	protein_coding	OTTHUMT00000449522.3	G	NM_170711		1430343	+1	no_errors	ENST00000233078	ensembl	human	known	70_37	missense	SNP	0.993	A
DBN1	1627	genome.wustl.edu	37	5	176894312	176894312	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:176894312C>G	ENST00000309007.5	-	6	718	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DBN1_ENST00000393565.1_Missense_Mutation_p.D167H|DBN1_ENST00000292385.5_Missense_Mutation_p.D169H	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	167					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCTGCATCCGTCTTCTGG	0.592																																																	0													243.0	257.0	252.0					5																	176894312		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.499G>C	5.37:g.176894312C>G	ENSP00000308532:p.Asp167His		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.D169H	ENST00000309007.5	37	c.505	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583642	0.65992	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41758	0.99;0.99;0.99	5.06	5.06	0.68205	.	0.106321	0.64402	D	0.000007	T	0.53367	0.1792	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.78314	0.98;0.979;0.944;0.991	T	0.53954	-0.8365	10	0.72032	D	0.01	-25.3248	11.6798	0.51451	0.0:0.9185:0.0:0.0815	.	117;167;167;169	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	H	167;169;167;166	ENSP00000308532:D167H;ENSP00000292385:D169H;ENSP00000377195:D167H	ENSP00000292385:D169H	D	-	1	0	DBN1	176826918	0.998000	0.40836	0.187000	0.23214	0.910000	0.53928	3.591000	0.53986	2.642000	0.89623	0.561000	0.74099	GAT	DBN1	-	NULL		0.592	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	C	NM_080881		176894312	-1	no_errors	ENST00000292385	ensembl	human	known	70_37	missense	SNP	0.742	G
DCAF5	8816	genome.wustl.edu	37	14	69522025	69522025	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:69522025C>G	ENST00000341516.5	-	9	1525	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	DCAF5_ENST00000557386.1_Missense_Mutation_p.E459Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.E378Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.E378Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	460					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCCGAAGACTCTGAGTCAGTG	0.612																																																	0													60.0	54.0	56.0					14																	69522025		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1378G>C	14.37:g.69522025C>G	ENSP00000341351:p.Glu460Gln		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E460Q	ENST00000341516.5	37	c.1378	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213905	0.39102	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.68624	-0.34;-0.17;-0.17;0.27	5.68	4.74	0.60224	.	0.525921	0.20768	N	0.086038	T	0.63343	0.2503	L	0.27053	0.805	0.80722	D	1	P;P	0.50819	0.939;0.9	P;P	0.51193	0.662;0.461	T	0.61242	-0.7102	10	0.33940	T	0.23	-18.1644	15.4522	0.75282	0.1393:0.8607:0.0:0.0	.	459;460	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	460;378;378;459	ENSP00000341351:E460Q;ENSP00000451551:E378Q;ENSP00000452052:E378Q;ENSP00000451845:E459Q	ENSP00000341351:E460Q	E	-	1	0	DCAF5	68591778	0.980000	0.34600	0.988000	0.46212	0.934000	0.57294	3.037000	0.49775	2.683000	0.91414	0.561000	0.74099	GAG	DCAF5	-	NULL		0.612	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	C	NM_003861		69522025	-1	no_errors	ENST00000341516	ensembl	human	known	70_37	missense	SNP	0.984	G
DDI1	414301	genome.wustl.edu	37	11	103908011	103908011	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:103908011C>T	ENST00000302259.3	+	1	704	c.461C>T	c.(460-462)cCc>cTc	p.P154L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	154							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCTCCAACCCCCACGATCTG	0.642																																																	0													56.0	54.0	55.0					11																	103908011		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.461C>T	11.37:g.103908011C>T	ENSP00000302805:p.Pro154Leu		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.P154L	ENST00000302259.3	37	c.461	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017694	0.54576	.	.	ENSG00000170967	ENST00000302259	T	0.30182	1.54	5.02	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.83223	2.63	0.80722	D	1	P	0.51653	0.947	P	0.52823	0.71	T	0.59963	-0.7355	10	0.87932	D	0	-32.9285	13.6602	0.62363	0.0:0.8438:0.1562:0.0	.	154	Q8WTU0	DDI1_HUMAN	L	154	ENSP00000302805:P154L	ENSP00000302805:P154L	P	+	2	0	DDI1	103413221	1.000000	0.71417	0.026000	0.17262	0.275000	0.26752	5.447000	0.66606	1.486000	0.48398	-0.150000	0.13652	CCC	DDI1	-	NULL		0.642	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	C	NM_001001711		103908011	+1	no_errors	ENST00000302259	ensembl	human	known	70_37	missense	SNP	0.993	T
DENND2C	163259	genome.wustl.edu	37	1	115143494	115143494	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:115143494C>T	ENST00000393274.1	-	14	2528	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.A578T|DENND2C_ENST00000393277.1_Missense_Mutation_p.A635T	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTCCAGGAGCTGGGAAAGGA	0.443																																																	0													128.0	124.0	125.0					1																	115143494		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1903G>A	1.37:g.115143494C>T	ENSP00000376955:p.Ala635Thr		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A635T	ENST00000393274.1	37	c.1903	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.601376	0.96614	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12147	2.71;2.71;2.71	5.18	5.18	0.71444	DENN (3);	0.000000	0.49916	U	0.000121	T	0.30324	0.0761	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.882	T	0.05784	-1.0864	10	0.87932	D	0	.	18.7701	0.91888	0.0:1.0:0.0:0.0	.	635;578	Q68D51;Q68D51-3	DEN2C_HUMAN;.	T	578;635;635;635	ENSP00000376957:A578T;ENSP00000376955:A635T;ENSP00000376958:A635T	ENSP00000358553:A635T	A	-	1	0	DENND2C	114945017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.431000	0.82371	0.650000	0.86243	GCT	DENND2C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.443	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115143494	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T
DENND2C	163259	genome.wustl.edu	37	1	115166239	115166239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:115166239G>A	ENST00000393274.1	-	5	1457	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q278*|DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q278*	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	278					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAAAGTGCTGAATATCCTCA	0.294																																																	0													76.0	73.0	74.0					1																	115166239		2202	4300	6502	SO:0001587	stop_gained	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.832C>T	1.37:g.115166239G>A	ENSP00000376955:p.Gln278*		B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q278*	ENST00000393274.1	37	c.832	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.807719	0.99470	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	6.06	6.06	0.98353	.	0.269957	0.38778	N	0.001561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	278	.	ENSP00000358553:Q278X	Q	-	1	0	DENND2C	114967762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.914000	0.63348	2.882000	0.98803	0.655000	0.94253	CAG	DENND2C	-	NULL		0.294	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	G	NM_198459		115166239	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DIS3L	115752	genome.wustl.edu	37	15	66625346	66625346	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:66625346G>C	ENST00000319212.4	+	17	2911	c.2861G>C	c.(2860-2862)aGa>aCa	p.R954T	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.R871T	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	954					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.R871K(1)|p.R954K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCTAGGTAAGAATATCCATA	0.289																																																	2	Substitution - Missense(2)	large_intestine(2)											40.0	42.0	41.0					15																	66625346		2198	4297	6495	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2861G>C	15.37:g.66625346G>C	ENSP00000321711:p.Arg954Thr		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R954T	ENST00000319212.4	37	c.2861	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184224	0.38609	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.22743	1.95;1.94	5.64	2.41	0.29592	.	0.326495	0.34700	N	0.003747	T	0.21590	0.0520	L	0.56769	1.78	0.20196	N	0.999926	P	0.44627	0.839	P	0.44394	0.448	T	0.09596	-1.0667	10	0.51188	T	0.08	-4.6475	5.6467	0.17594	0.2551:0.0:0.6115:0.1334	.	954	Q8TF46	DI3L1_HUMAN	T	871;954	ENSP00000321583:R871T;ENSP00000321711:R954T	ENSP00000321583:R871T	R	+	2	0	DIS3L	64412400	0.150000	0.22732	0.225000	0.23894	0.955000	0.61496	1.517000	0.35867	0.192000	0.20272	0.655000	0.94253	AGA	DIS3L	-	NULL		0.289	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66625346	+1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	0.166	C
DLL3	10683	genome.wustl.edu	37	19	39994804	39994804	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39994804C>T	ENST00000205143.4	+	5	753	c.746C>T	c.(745-747)aCg>aTg	p.T249M	DLL3_ENST00000356433.5_Missense_Mutation_p.T249M	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	249	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTCTGCACGGTCCCTGTC	0.672																																																	0													65.0	63.0	64.0					19																	39994804		2203	4300	6503	SO:0001583	missense	10683			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.746C>T	19.37:g.39994804C>T	ENSP00000205143:p.Thr249Met		E9PFG2|Q8NBS4	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T249M	ENST00000205143.4	37	c.746	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068839	0.36470	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89343	-2.44;-2.5	4.87	3.84	0.44239	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.248773	0.28940	N	0.013652	D	0.90810	0.7114	M	0.62723	1.935	0.29589	N	0.848538	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.61722	0.765;0.893;0.893	D	0.85868	0.1414	9	.	.	.	.	7.5745	0.27928	0.164:0.7504:0.0:0.0856	.	249;249;249	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	M	249	ENSP00000348810:T249M;ENSP00000205143:T249M	.	T	+	2	0	DLL3	44686644	.	.	0.866000	0.34008	0.810000	0.45777	.	.	1.424000	0.47217	0.561000	0.74099	ACG	DLL3	-	smart_EG-like_dom		0.672	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	C			39994804	+1	no_errors	ENST00000205143	ensembl	human	known	70_37	missense	SNP	0.701	T
DLX4	1748	genome.wustl.edu	37	17	48051276	48051276	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:48051276C>G	ENST00000240306.3	+	3	987	c.692C>G	c.(691-693)tCa>tGa	p.S231*	DLX4_ENST00000411890.2_Nonsense_Mutation_p.S159*	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	231					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CATCACTCCTCAGATGTCCTG	0.622																																																	0													47.0	47.0	47.0					17																	48051276		2203	4300	6503	SO:0001587	stop_gained	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.692C>G	17.37:g.48051276C>G	ENSP00000240306:p.Ser231*		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S231*	ENST00000240306.3	37	c.692	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.411567	0.97546	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	.	.	.	5.14	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.46061	D	0.998849	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7495	12.9645	0.58475	0.1614:0.8386:0.0:0.0	.	.	.	.	X	231;159	.	ENSP00000240306:S231X	S	+	2	0	DLX4	45406275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.889000	0.48601	2.666000	0.90696	0.561000	0.74099	TCA	DLX4	-	NULL		0.622	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48051276	+1	no_errors	ENST00000240306	ensembl	human	known	70_37	nonsense	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	32382743	32382743	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:32382743C>T	ENST00000357033.4	-	36	5316	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	DMD_ENST00000378677.2_Missense_Mutation_p.E1700K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1704	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTCTGATTCATCCAAAAGT	0.368																																																	0													253.0	211.0	226.0					X																	32382743		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5110G>A	X.37:g.32382743C>T	ENSP00000354923:p.Glu1704Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E1704K	ENST00000357033.4	37	c.5110	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.284128	0.95489	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51817	0.69;0.69	5.38	5.38	0.77491	.	0.000000	0.35838	U	0.002956	T	0.65647	0.2711	L	0.61387	1.9	0.80722	D	1	D;D;D;D;D	0.65815	0.994;0.957;0.995;0.995;0.995	D;D;D;D;D	0.67103	0.915;0.913;0.949;0.949;0.949	T	0.62849	-0.6767	10	0.34782	T	0.22	.	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1696;1704;1700;363;360	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1696;363;360;1700;1704;1704;1581	ENSP00000367948:E1700K;ENSP00000354923:E1704K	ENSP00000354923:E1704K	E	-	1	0	DMD	32292664	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.722000	0.61958	2.371000	0.80710	0.538000	0.68166	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32382743	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DMWD	1762	genome.wustl.edu	37	19	46289821	46289821	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46289821G>A	ENST00000270223.6	-	3	978	c.933C>T	c.(931-933)ttC>ttT	p.F311F	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.F311F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	311										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGTCGAAGTGGAAGACGCGCA	0.662																																																	0													43.0	48.0	47.0					19																	46289821		2203	4300	6503	SO:0001819	synonymous_variant	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.933C>T	19.37:g.46289821G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F311	ENST00000270223.6	37	c.933	CCDS33054.1	19																																																																																			DMWD	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.662	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	G	NM_004943		46289821	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	silent	SNP	1.000	A
DMWD	1762	genome.wustl.edu	37	19	46290067	46290067	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46290067G>C	ENST00000270223.6	-	3	732	c.687C>G	c.(685-687)ttC>ttG	p.F229L	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.F229L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	229										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGATGCCAGGAACAGGCTCT	0.627																																																	0													45.0	38.0	40.0					19																	46290067		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.687C>G	19.37:g.46290067G>C	ENSP00000270223:p.Phe229Leu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F229L	ENST00000270223.6	37	c.687	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	G	12.60	1.988038	0.35036	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.19532	2.14;2.14	4.1	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.91300	3.195	0.50467	D	0.999876	B;B	0.23128	0.08;0.048	B;B	0.27887	0.084;0.039	T	0.12091	-1.0561	10	0.44086	T	0.13	-26.6381	5.9328	0.19148	0.2612:0.0:0.7388:0.0	.	229;229	G5E9A7;Q09019	.;DMWD_HUMAN	L	229	ENSP00000366964:F229L;ENSP00000270223:F229L	ENSP00000270223:F229L	F	-	3	2	DMWD	50981907	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.525000	0.60559	0.969000	0.38237	0.514000	0.50259	TTC	DMWD	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.627	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	G	NM_004943		46290067	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH5	1767	genome.wustl.edu	37	5	13829760	13829760	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:13829760G>A	ENST00000265104.4	-	38	6407	c.6303C>T	c.(6301-6303)ttC>ttT	p.F2101F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2101	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACTGAGCGGAAATTAATCT	0.453									Kartagener syndrome																																								0													114.0	104.0	108.0					5																	13829760		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6303C>T	5.37:g.13829760G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F2101	ENST00000265104.4	37	c.6303	CCDS3882.1	5																																																																																			DNAH5	-	smart_AAA+_ATPase		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13829760	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAJC10	54431	genome.wustl.edu	37	2	183584845	183584845	+	Missense_Mutation	SNP	G	G	A	rs141135661		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:183584845G>A	ENST00000264065.7	+	4	731	c.316G>A	c.(316-318)Gat>Aat	p.D106N	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.D106N	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	106					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGGACTTGAGGATAATCAAGG	0.328																																					Pancreas(56;860 1183 25669 35822 48585)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	169.0	163.0	165.0		316	5.9	1.0	2	dbSNP_134	165	0,8600		0,0,4300	no	missense	DNAJC10	NM_018981.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	106/794	183584845	1,13005	2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.316G>A	2.37:g.183584845G>A	ENSP00000264065:p.Asp106Asn		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.D106N	ENST00000264065.7	37	c.316	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862547	0.91511	2.27E-4	0.0	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.73047	-0.71;-0.71	5.87	5.87	0.94306	Heat shock protein DnaJ, N-terminal (2);	0.101779	0.64402	D	0.000003	T	0.81327	0.4799	L	0.57536	1.79	0.80722	D	1	P;P	0.51653	0.946;0.947	P;P	0.60236	0.871;0.589	T	0.80042	-0.1548	10	0.51188	T	0.08	.	20.1985	0.98248	0.0:0.0:1.0:0.0	.	106;106	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	N	106	ENSP00000264065:D106N;ENSP00000441560:D106N	ENSP00000264065:D106N	D	+	1	0	DNAJC10	183293090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.729000	0.98795	2.767000	0.95098	0.563000	0.77884	GAT	DNAJC10	-	superfamily_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ		0.328	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	G	NM_018981		183584845	+1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	A
DPAGT1	1798	genome.wustl.edu	37	11	118968001	118968001	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:118968001C>G	ENST00000409993.2	-	10	2563	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	DPAGT1_ENST00000354202.4_Missense_Mutation_p.E338Q|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_Missense_Mutation_p.E231Q			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	338					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGGAGGCTCTCTGCCACCTGG	0.453																																																	0													180.0	177.0	178.0					11																	118968001		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1012G>C	11.37:g.118968001C>G	ENSP00000386597:p.Glu338Gln		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	pfam_Glycosyl_transferase_4	p.E338Q	ENST00000409993.2	37	c.1012	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282074	0.23392	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91843	-2.92;-2.92;-2.81	5.38	3.48	0.39840	.	0.255835	0.44285	D	0.000474	D	0.86727	0.6002	L	0.51914	1.62	0.52501	D	0.999956	B;B	0.21821	0.001;0.061	B;B	0.17433	0.004;0.018	T	0.78460	-0.2195	10	0.21540	T	0.41	-11.6706	7.2946	0.26385	0.0:0.7032:0.142:0.1547	.	231;338	E7EW40;Q9H3H5	.;GPT_HUMAN	Q	338;338;231	ENSP00000386597:E338Q;ENSP00000346142:E338Q;ENSP00000404036:E231Q	ENSP00000346142:E338Q	E	-	1	0	DPAGT1	118473211	1.000000	0.71417	0.778000	0.31720	0.700000	0.40528	4.511000	0.60462	0.805000	0.34159	0.655000	0.94253	GAG	DPAGT1	-	NULL		0.453	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2	C	NM_001382		118968001	-1	no_errors	ENST00000354202	ensembl	human	known	70_37	missense	SNP	1.000	G
DSG3	1830	genome.wustl.edu	37	18	29056197	29056197	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:29056197G>A	ENST00000257189.4	+	16	3057	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	992					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTCTGTACAGAGGATCCTTG	0.463																																																	0													118.0	114.0	115.0					18																	29056197		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2974G>A	18.37:g.29056197G>A	ENSP00000257189:p.Glu992Lys		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.E992K	ENST00000257189.4	37	c.2974	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692035	0.30052	.	.	ENSG00000134757	ENST00000257189	D	0.81996	-1.56	5.54	2.49	0.30216	.	0.393064	0.21052	N	0.080979	T	0.75184	0.3815	L	0.49778	1.585	0.28710	N	0.903604	B	0.20261	0.043	B	0.17979	0.02	T	0.67628	-0.5622	10	0.51188	T	0.08	.	6.5344	0.22344	0.1611:0.2802:0.5587:0.0	.	992	P32926	DSG3_HUMAN	K	992	ENSP00000257189:E992K	ENSP00000257189:E992K	E	+	1	0	DSG3	27310195	0.741000	0.28217	0.927000	0.36925	0.118000	0.20060	0.934000	0.28910	0.755000	0.32990	0.591000	0.81541	GAG	DSG3	-	NULL		0.463	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29056197	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.942	A
DST	667	genome.wustl.edu	37	6	56472305	56472305	+	Missense_Mutation	SNP	C	C	T	rs111657428		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:56472305C>T	ENST00000361203.3	-	36	6495	c.6488G>A	c.(6487-6489)cGa>cAa	p.R2163Q	DST_ENST00000370769.4_Missense_Mutation_p.R2163Q|DST_ENST00000370754.5_Missense_Mutation_p.R2341Q|DST_ENST00000446842.2_Missense_Mutation_p.R1837Q|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2163Q|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	2163					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTTCCACTCGGCTTTGATT	0.318																																																	0													83.0	67.0	72.0					6																	56472305		1847	4098	5945	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6488G>A	6.37:g.56472305C>T	ENSP00000354508:p.Arg2163Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R2341Q	ENST00000361203.3	37	c.7022		6	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.301802	0.00243	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.79352	0.19;0.19;1.14;-1.26;0.21;-0.02	5.49	0.0908	0.14465	.	0.600028	0.14683	N	0.304604	T	0.31949	0.0813	.	.	.	0.19575	N	0.999967	B	0.09022	0.002	B	0.01281	0.0	T	0.02683	-1.1124	8	0.10902	T	0.67	.	5.8361	0.18607	0.0:0.2161:0.3869:0.397	.	1837	Q03001-9	.	Q	2341;2163;1837;2163;2163;1837	ENSP00000359790:R2341Q;ENSP00000359805:R2163Q;ENSP00000393645:R1837Q;ENSP00000307959:R2163Q;ENSP00000354508:R2163Q;ENSP00000404924:R1837Q	ENSP00000307959:R2163Q	R	-	2	0	DST	56580264	0.002000	0.14202	0.004000	0.12327	0.002000	0.02628	0.128000	0.15810	-0.195000	0.10382	-2.925000	0.00089	CGA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56472305	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.000	T
DSTN	11034	genome.wustl.edu	37	20	17585273	17585273	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:17585273C>G	ENST00000246069.7	+	3	731	c.385C>G	c.(385-387)Caa>Gaa	p.Q129E	DSTN_ENST00000474024.1_Missense_Mutation_p.Q112E	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	129	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAAGAAATTTCAAGGTATGTT	0.388																																																	0													72.0	69.0	70.0					20																	17585273		2203	4300	6503	SO:0001583	missense	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.385C>G	20.37:g.17585273C>G	ENSP00000246069:p.Gln129Glu		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.Q129E	ENST00000246069.7	37	c.385	CCDS13127.1	20	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020101	0.35606	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.27256	1.68;1.68	5.72	5.72	0.89469	Actin-binding, cofilin/tropomyosin type (3);	0.522926	0.22053	N	0.065286	T	0.11239	0.0274	N	0.02247	-0.625	0.27768	N	0.943593	B	0.02656	0.0	B	0.08055	0.003	T	0.08472	-1.0720	10	0.02654	T	1	-8.7897	19.2318	0.93843	0.0:1.0:0.0:0.0	.	129	P60981	DEST_HUMAN	E	129;112	ENSP00000246069:Q129E;ENSP00000444808:Q112E	ENSP00000246069:Q129E	Q	+	1	0	DSTN	17533273	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.448000	0.44926	2.865000	0.98341	0.655000	0.94253	CAA	DSTN	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin		0.388	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTN	HGNC	protein_coding	OTTHUMT00000078131.6	C	NM_001011546		17585273	+1	no_errors	ENST00000246069	ensembl	human	known	70_37	missense	SNP	1.000	G
DSTN	11034	genome.wustl.edu	37	20	17587697	17587697	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:17587697G>T	ENST00000246069.7	+	4	750	c.404G>T	c.(403-405)tGt>tTt	p.C135F	DSTN_ENST00000474024.1_Missense_Mutation_p.C118F	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	135	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAACATGAATGTCAAGCAAAT	0.363																																																	0													123.0	112.0	116.0					20																	17587697		2203	4300	6503	SO:0001583	missense	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.404G>T	20.37:g.17587697G>T	ENSP00000246069:p.Cys135Phe		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.C135F	ENST00000246069.7	37	c.404	CCDS13127.1	20	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744858	0.30865	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.27104	1.69;1.69	6.02	5.07	0.68467	Actin-binding, cofilin/tropomyosin type (3);	0.211589	0.52532	D	0.000062	T	0.10252	0.0251	N	0.01242	-0.935	0.47441	D	0.999421	B	0.14012	0.009	B	0.06405	0.002	T	0.12116	-1.0560	10	0.34782	T	0.22	-5.0286	13.4917	0.61399	0.0753:0.0:0.9247:0.0	.	135	P60981	DEST_HUMAN	F	135;118	ENSP00000246069:C135F;ENSP00000444808:C118F	ENSP00000246069:C135F	C	+	2	0	DSTN	17535697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	1.533000	0.49186	0.655000	0.94253	TGT	DSTN	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin		0.363	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTN	HGNC	protein_coding	OTTHUMT00000078131.6	G	NM_001011546		17587697	+1	no_errors	ENST00000246069	ensembl	human	known	70_37	missense	SNP	1.000	T
MICU3	286097	genome.wustl.edu	37	8	16962944	16962944	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:16962944G>C	ENST00000318063.5	+	11	1150	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	370						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TCTCCAAACAGAAGTTCTAGA	0.308																																																	0													44.0	43.0	44.0					8																	16962944		2192	4295	6487	SO:0001583	missense	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1108G>C	8.37:g.16962944G>C	ENSP00000321455:p.Glu370Gln		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E370Q	ENST00000318063.5	37	c.1108	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.026342|4.026342	0.75390|0.75390	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.29655|.	1.56|.	4.99|4.99	4.1|4.1	0.47936|0.47936	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79106|0.79106	0.4390|0.4390	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66351|.	0.943|.	T|T	0.82709|0.82709	-0.0323|-0.0323	10|5	0.66056|.	D|.	0.02|.	-23.0039|-23.0039	15.5749|15.5749	0.76368|0.76368	0.0:0.0:0.8609:0.1391|0.0:0.0:0.8609:0.1391	.|.	370|.	Q86XE3|.	EFHA2_HUMAN|.	Q|H	370|214	ENSP00000321455:E370Q|.	ENSP00000321455:E370Q|.	E|Q	+|+	1|3	0|2	EFHA2|EFHA2	17007315|17007315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	1.398000|1.398000	0.46701|0.46701	0.650000|0.650000	0.86243|0.86243	GAA|CAG	EFHA2	-	NULL		0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	G	NM_181723		16962944	+1	no_errors	ENST00000318063	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3K	27335	genome.wustl.edu	37	19	39114771	39114771	+	Silent	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39114771G>T	ENST00000592558.1	+	3	271	c.213G>T	c.(211-213)ctG>ctT	p.L71L	EIF3K_ENST00000588934.1_Silent_p.L71L|EIF3K_ENST00000545173.2_Silent_p.L71L|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000248342.4_Silent_p.L71L|EIF3K_ENST00000538434.1_5'UTR					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGATCCTGCTGAAGGCCCTCA	0.572																																																	0													117.0	98.0	105.0					19																	39114771		2203	4300	6503	SO:0001819	synonymous_variant	27335			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000592558.1:c.213G>T	19.37:g.39114771G>T				Silent	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.L71	ENST00000592558.1	37	c.213		19																																																																																			EIF3K	-	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold		0.572	EIF3K-012	NOVEL	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453416.1	G	NM_013234		39114771	+1	no_errors	ENST00000248342	ensembl	human	known	70_37	silent	SNP	1.000	T
ELMOD3	84173	genome.wustl.edu	37	2	85598618	85598618	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85598618G>A	ENST00000409890.2	+	10	1207	c.540G>A	c.(538-540)aaG>aaA	p.K180K	RN7SL113P_ENST00000497900.2_RNA|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000315658.7_Silent_p.K180K|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.K180K|ELMOD3_ENST00000393852.4_Silent_p.K180K|ELMOD3_ENST00000409013.3_Silent_p.K180K|ELMOD3_ENST00000428955.2_Silent_p.K180K			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	180	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCATCTATAAGAAGCTGACCG	0.547																																																	0													95.0	94.0	95.0					2																	85598618		2203	4300	6503	SO:0001819	synonymous_variant	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.540G>A	2.37:g.85598618G>A			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	pfam_Engulfment_cell_motility_ELMO	p.K180	ENST00000409890.2	37	c.540	CCDS46352.1	2																																																																																			ELMOD3	-	pfam_Engulfment_cell_motility_ELMO		0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	HGNC	protein_coding	OTTHUMT00000329124.1	G	NM_032213		85598618	+1	no_errors	ENST00000315658	ensembl	human	known	70_37	silent	SNP	1.000	A
EMD	2010	genome.wustl.edu	37	X	153609278	153609278	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153609278G>A	ENST00000369842.4	+	6	774	c.486G>A	c.(484-486)caG>caA	p.Q162Q	EMD_ENST00000369835.3_Silent_p.Q127Q|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	162	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCCTACCAGAGCATCACGC	0.602																																																	0													118.0	82.0	94.0					X																	153609278		2203	4300	6503	SO:0001819	synonymous_variant	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.486G>A	X.37:g.153609278G>A			Q6FI02	Silent	SNP	pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.Q162	ENST00000369842.4	37	c.486	CCDS14745.1	X																																																																																			EMD	-	NULL		0.602	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	G			153609278	+1	no_errors	ENST00000369842	ensembl	human	known	70_37	silent	SNP	0.998	A
LBR	3930	genome.wustl.edu	37	1	225601659	225601659	+	Intron	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:225601659G>C	ENST00000338179.2	-	8	1018				AC092811.1_ENST00000366845.2_Missense_Mutation_p.K28N|LBR_ENST00000272163.4_Intron	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor						cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ACTTAGAAAAGAATTGGTACC	0.483																																																	0																																										SO:0001627	intron_variant	0			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.893-1312C>G	1.37:g.225601659G>C			B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	NULL	p.K28N	ENST00000338179.2	37	c.84	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085919	0.20390	.	.	ENSG00000203691	ENST00000366845	.	.	.	2.01	1.09	0.20402	.	.	.	.	.	T	0.38108	0.1028	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37079	-0.9721	5	0.87932	D	0	.	4.5043	0.11879	0.1915:0.0:0.8085:0.0	.	.	.	.	N	28	.	ENSP00000355810:K28N	K	+	3	2	AC092811.1	223668282	0.019000	0.18553	0.004000	0.12327	0.230000	0.25150	0.259000	0.18405	0.427000	0.26145	0.586000	0.80456	AAG	AC092811.1	-	NULL		0.483	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000203691	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225601659	+1	no_errors	ENST00000366845	ensembl	human	known	70_37	missense	SNP	0.004	C
RP1-29C18.10	0	genome.wustl.edu	37	22	49947424	49947424	+	RNA	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:49947424G>A	ENST00000391625.2	+	0	1197																											CAGCATCCGGGAACACGGAAA	0.612																																																	0																																												0																															22.37:g.49947424G>A				RNA	SNP	-	NULL	ENST00000391625.2	37	NULL		22																																																																																			RP1-29C18.10	-	-		0.612	RP1-29C18.10-001	KNOWN	basic	antisense	ENSG00000212939	Clone_based_vega_gene	antisense	OTTHUMT00000317431.1	G			49947424	+1	no_errors	ENST00000391625	ensembl	human	known	70_37	rna	SNP	0.000	A
PEX7	5191	genome.wustl.edu	37	6	137222245	137222245	+	Intron	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:137222245C>T	ENST00000318471.4	+	9	984				RP11-55K22.2_ENST00000574864.1_RNA|PEX7_ENST00000541292.1_Intron	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7						endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CCTGTTGCTTCAAGATAGCAG	0.498																																																	0																																										SO:0001627	intron_variant	0			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.903+2866C>T	6.37:g.137222245C>T			C0H5X6	RNA	SNP	-	NULL	ENST00000318471.4	37	NULL	CCDS5180.1	6																																																																																			RP11-55K22.2	-	-		0.498	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000213109	Clone_based_vega_gene	protein_coding	OTTHUMT00000042387.2	C	NM_000288		137222245	-1	no_errors	ENST00000574864	ensembl	human	known	70_37	rna	SNP	1.000	T
C19orf24	55009	genome.wustl.edu	37	19	1278930	1278930	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:1278930G>A	ENST00000409293.4	+	0	1076				C19orf24_ENST00000469144.1_Missense_Mutation_p.E41K	NM_017914.3	NP_060384.3	Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTTTTGGAACCTGCACA	0.697																																																	0													66.0	64.0	65.0					19																	1278930		2202	4298	6500	SO:0001624	3_prime_UTR_variant	0			BC000890	CCDS12060.2	19p13.3	2012-10-24			ENSG00000228300	ENSG00000228300			26073	protein-coding gene	gene with protein product						16847563	Standard	NM_017914		Approved	FLJ20640	uc002lrw.4	Q9BVV8	OTTHUMG00000153928	ENST00000409293.4:c.*154G>A	19.37:g.1278930G>A			Q9NWS2	Missense_Mutation	SNP	NULL	p.E41K	ENST00000409293.4	37	c.121	CCDS12060.2	19	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005797	0.19199	.	.	ENSG00000226593	ENST00000416408	.	.	.	2.55	0.0769	0.14405	.	.	.	.	.	T	0.31638	0.0803	.	.	.	.	.	.	P	0.36354	0.549	B	0.37144	0.242	T	0.35624	-0.9781	6	0.87932	D	0	.	4.7888	0.13238	0.0:0.2388:0.5173:0.2439	.	41	D6W5Y7	.	K	41	.	ENSP00000407816:E41K	E	+	1	0	AC004258.1	1229930	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	1.147000	0.31602	-0.053000	0.13289	0.462000	0.41574	GAA	C19ORF24	-	NULL		0.697	C19orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000226593	Uniprot_genename	protein_coding	OTTHUMT00000333049.2	G	NM_017914		1278930	+1	no_errors	ENST00000416408	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF451	26036	genome.wustl.edu	37	6	57015509	57015509	+	Intron	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:57015509C>G	ENST00000370706.4	+	11	2852				RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Intron|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATATTTCTCTCTTCTCAGAGG	0.328																																																	0													83.0	76.0	79.0					6																	57015509		1812	4070	5882	SO:0001627	intron_variant	0			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2609-8C>G	6.37:g.57015509C>G			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	RNA	SNP	-	NULL	ENST00000370706.4	37	NULL	CCDS43477.1	6																																																																																			RP11-203B9.4	-	-		0.328	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000226803	Clone_based_vega_gene	protein_coding	OTTHUMT00000041035.2	C	NM_015555		57015509	-1	no_errors	ENST00000589263	ensembl	human	known	70_37	rna	SNP	0.015	G
GLUD1P2	100381203	genome.wustl.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																																	0																																												0			X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G				RNA	SNP	-	NULL	ENST00000594520.1	37	NULL		10																																																																																			GLUDP2	-	-		0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	ENSG00000227781	Clone_based_vega_gene	pseudogene	OTTHUMT00000461126.1	A	NG_016765		48968566	+1	no_errors	ENST00000438010	ensembl	human	known	70_37	rna	SNP	0.999	G
RPL7P60	100289264	genome.wustl.edu	37	7	99737962	99737962	+	RNA	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:99737962G>C	ENST00000376482.3	+	0	242																											TTCCATTGAAGATTTGAGGAA	0.463																																																	0																																												0																															7.37:g.99737962G>C				RNA	SNP	-	NULL	ENST00000376482.3	37	NULL		7																																																																																			AC073842.19	-	-		0.463	AC073842.19-001	KNOWN	basic	antisense	ENSG00000235077	Clone_based_vega_gene	antisense	OTTHUMT00000337349.1	G			99737962	+1	no_errors	ENST00000376482	ensembl	human	known	70_37	rna	SNP	1.000	C
WDR74	54663	genome.wustl.edu	37	11	62601423	62601423	+	Intron	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:62601423G>T	ENST00000525239.1	-	10	1313				WDR74_ENST00000529106.1_Intron|RP11-727F15.9_ENST00000535867.1_RNA|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000311713.7_Intron|WDR74_ENST00000525752.1_Intron|STX5_ENST00000294179.3_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000278856.4_Intron			Q6RFH5	WDR74_HUMAN	WD repeat domain 74						blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GAGAAGGGGGGAAGCATCCGT	0.512																																																	0													55.0	58.0	57.0					11																	62601423		1963	4152	6115	SO:0001627	intron_variant	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.776-14C>A	11.37:g.62601423G>T			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	RNA	SNP	-	NULL	ENST00000525239.1	37	NULL	CCDS44630.1	11																																																																																			RP11-727F15.9	-	-		0.512	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256690	Clone_based_vega_gene	protein_coding	OTTHUMT00000395678.1	G	NM_018093		62601423	+1	no_errors	ENST00000535817	ensembl	human	known	70_37	rna	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	14	60864642	60864642	+	IGR	SNP	C	C	T	rs571181888		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:60864642C>T								CTD-2568P8.1 (74017 upstream) : C14orf39 (38031 downstream)																							ATTATGACAGCGTGGAGCAGG	0.532													-|||	1	0.000199681	0.0	0.0	5008	,	,		19012	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001628	intergenic_variant	0																															14.37:g.60864642C>T				RNA	SNP	-	NULL		37	NULL		14																																																																																			CTD-2568P8.3	-	-	0	0.532					ENSG00000258427	Clone_based_vega_gene			C			60864642	+1	no_errors	ENST00000601298	ensembl	human	known	70_37	rna	SNP	0.970	T
CARHSP1	23589	genome.wustl.edu	37	16	8948920	8948920	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:8948920G>A	ENST00000396593.2	-	0	904				RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_3'UTR|RP11-77H9.5_ENST00000564919.1_RNA|CARHSP1_ENST00000561530.1_3'UTR	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa						intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						ATGCCCGGCTGAAGCCCCGTC	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.*101C>T	16.37:g.8948920G>A			B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	RNA	SNP	-	NULL	ENST00000396593.2	37	NULL	CCDS10537.1	16																																																																																			RP11-77H9.2	-	-		0.602	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260276	Clone_based_vega_gene	protein_coding	OTTHUMT00000251902.1	G	NM_014316		8948920	+1	no_errors	ENST00000565934	ensembl	human	known	70_37	rna	SNP	0.099	A
DOT1L	84444	genome.wustl.edu	37	19	2214634	2214634	+	Intron	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:2214634C>T	ENST00000398665.3	+	19	1959				AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_Intron	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTCCGAGCCTCTCCCATC	0.627																																																	0													13.0	18.0	16.0					19																	2214634		2117	4227	6344	SO:0001627	intron_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1923+39C>T	19.37:g.2214634C>T			O60379|Q96JL1	RNA	SNP	-	NULL	ENST00000398665.3	37	NULL	CCDS42460.1	19																																																																																			AC004490.1	-	-		0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267122	Clone_based_vega_gene	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2214634	-1	no_errors	ENST00000585593	ensembl	human	known	70_37	rna	SNP	0.001	T
BIRC5	332	genome.wustl.edu	37	17	76212746	76212746	+	Missense_Mutation	SNP	G	G	C	rs368114063		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:76212746G>C	ENST00000600484.1	-	6	850	c.851C>G	c.(850-852)tCt>tGt	p.S284C	BIRC5_ENST00000350051.3_Splice_Site_p.E75Q|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000301633.4_Splice_Site_p.E98Q|BIRC5_ENST00000592734.1_Intron																							TTTTTCTAGAGAGGAACATAA	0.493																																																	0													73.0	81.0	79.0					17																	76212746		2203	4300	6503	SO:0001583	missense	0																														ENST00000600484.1:c.851C>G	17.37:g.76212746G>C	ENSP00000473193:p.Ser284Cys			Missense_Mutation	SNP	NULL	p.S284C	ENST00000600484.1	37	c.851		17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014345	0.35511	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.72942	3.71;-0.7	5.4	3.28	0.37604	Baculoviral inhibition of apoptosis protein repeat (4);	0.282585	0.38959	N	0.001515	T	0.53029	0.1771	N	0.21508	0.67	0.80722	D	1	B;B;B;B	0.16166	0.01;0.004;0.016;0.013	B;B;B;B	0.21151	0.012;0.01;0.033;0.012	T	0.49062	-0.8978	10	0.29301	T	0.29	0.449	9.5997	0.39596	0.0:0.1418:0.6958:0.1624	.	75;75;98;75	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	Q	98;75;98	ENSP00000301633:E98Q;ENSP00000324180:E75Q	ENSP00000301633:E98Q	E	+	1	0	BIRC5	73724341	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.084000	0.30828	2.531000	0.85337	0.462000	0.41574	GAG	AC087645.1	-	NULL		0.493	AC087645.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268310	Clone_based_ensembl_gene	protein_coding		G			76212746	-1	no_errors	ENST00000600484	ensembl	human	known	70_37	missense	SNP	0.989	C
EPHA1	2041	genome.wustl.edu	37	7	143090861	143090861	+	Missense_Mutation	SNP	G	G	C	rs199929557		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:143090861G>C	ENST00000275815.3	-	16	2685	c.2599C>G	c.(2599-2601)Cgt>Ggt	p.R867G	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CGGCGGGCACGGTCATATGCC	0.587																																																	0													76.0	73.0	74.0					7																	143090861		2203	4300	6503	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2599C>G	7.37:g.143090861G>C	ENSP00000275815:p.Arg867Gly		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R867G	ENST00000275815.3	37	c.2599	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644385	0.47258	.	.	ENSG00000146904	ENST00000275815	T	0.62105	0.05	5.16	0.962	0.19643	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.230140	0.31031	N	0.008382	T	0.52273	0.1724	N	0.25201	0.72	0.46542	D	0.999091	P	0.45569	0.861	P	0.50970	0.655	T	0.49925	-0.8887	10	0.87932	D	0	.	6.0653	0.19860	0.1516:0.0:0.5735:0.2749	.	867	P21709	EPHA1_HUMAN	G	867	ENSP00000275815:R867G	ENSP00000275815:R867G	R	-	1	0	EPHA1	142800983	0.337000	0.24766	0.147000	0.22382	0.975000	0.68041	1.075000	0.30716	-0.009000	0.14296	-0.152000	0.13540	CGT	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	G			143090861	-1	no_errors	ENST00000275815	ensembl	human	known	70_37	missense	SNP	0.812	C
EPHA7	2045	genome.wustl.edu	37	6	94068049	94068049	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:94068049C>T	ENST00000369303.4	-	4	1097	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	305	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GAGGAGCCTTCTTTATCAGAA	0.463																																																	0													108.0	100.0	103.0					6																	94068049		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.913G>A	6.37:g.94068049C>T	ENSP00000358309:p.Glu305Lys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E305K	ENST00000369303.4	37	c.913	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416017	0.83449	.	.	ENSG00000135333	ENST00000369303	T	0.29397	1.57	5.62	5.62	0.85841	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.054136	0.64402	D	0.000001	T	0.28896	0.0717	M	0.79475	2.455	0.80722	D	1	P;P;P	0.47762	0.762;0.9;0.837	B;B;B	0.39379	0.298;0.167;0.272	T	0.29274	-1.0017	10	0.49607	T	0.09	.	19.6473	0.95784	0.0:1.0:0.0:0.0	.	305;305;305	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	305	ENSP00000358309:E305K	ENSP00000358309:E305K	E	-	1	0	EPHA7	94124770	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.792000	0.85828	2.652000	0.90054	0.655000	0.94253	GAA	EPHA7	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.463	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94068049	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	T
EPS8	2059	genome.wustl.edu	37	12	15800130	15800130	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:15800130C>G	ENST00000281172.5	-	15	1935	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	EPS8_ENST00000543612.1_Missense_Mutation_p.R500T|EPS8_ENST00000543523.1_Missense_Mutation_p.R500T|EPS8_ENST00000542903.1_Missense_Mutation_p.R240T|EPS8_ENST00000540613.1_Missense_Mutation_p.R240T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	500					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTGGGATCCTCTTGTGTAAAT	0.453																																																	0													154.0	141.0	146.0					12																	15800130		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1499G>C	12.37:g.15800130C>G	ENSP00000281172:p.Arg500Thr		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.R500T	ENST00000281172.5	37	c.1499	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683345	0.29872	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.08102	3.3;3.3;3.3;3.13;3.13	4.08	4.08	0.47627	.	0.246105	0.35291	N	0.003318	T	0.10165	0.0249	L	0.51422	1.61	0.38568	D	0.949872	B	0.29115	0.233	B	0.19148	0.024	T	0.12553	-1.0543	10	0.56958	D	0.05	-21.587	16.8288	0.85938	0.0:1.0:0.0:0.0	.	500	Q12929	EPS8_HUMAN	T	500;500;500;240;240;500	ENSP00000441867:R500T;ENSP00000281172:R500T;ENSP00000442388:R500T;ENSP00000441888:R240T;ENSP00000437806:R240T	ENSP00000281172:R500T	R	-	2	0	EPS8	15691397	1.000000	0.71417	0.586000	0.28679	0.197000	0.23852	5.936000	0.70153	2.270000	0.75569	0.563000	0.77884	AGA	EPS8	-	NULL		0.453	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	C			15800130	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	0.998	G
EPS8L3	79574	genome.wustl.edu	37	1	110301890	110301890	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:110301890G>T	ENST00000361965.4	-	5	481	c.375C>A	c.(373-375)agC>agA	p.S125R	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S125R|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S125R	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	125						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGAGCAGAGTGCTAGTGCCTG	0.597																																																	0													143.0	144.0	144.0					1																	110301890		2203	4300	6503	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.375C>A	1.37:g.110301890G>T	ENSP00000355255:p.Ser125Arg		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.S125R	ENST00000361965.4	37	c.375	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512470	0.44660	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.32988	1.43;1.43;1.43	5.24	2.26	0.28386	Tensin phosphotyrosine-binding domain (1);	0.542979	0.23148	N	0.051387	T	0.37433	0.1003	M	0.73598	2.24	0.39164	D	0.962461	D;D;D;D	0.67145	0.994;0.993;0.994;0.996	D;D;D;D	0.67900	0.954;0.923;0.954;0.925	T	0.31916	-0.9926	10	0.72032	D	0.01	-6.227	7.8523	0.29462	0.3372:0.0:0.6628:0.0	.	125;125;125;125	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	R	125	ENSP00000354551:S125R;ENSP00000358820:S125R;ENSP00000355255:S125R	ENSP00000354551:S125R	S	-	3	2	EPS8L3	110103413	0.958000	0.32768	0.731000	0.30826	0.314000	0.28054	0.682000	0.25335	0.688000	0.31529	0.655000	0.94253	AGC	EPS8L3	-	pfam_PTB		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	G	NM_024526		110301890	-1	no_errors	ENST00000369805	ensembl	human	known	70_37	missense	SNP	0.863	T
EXTL3	2137	genome.wustl.edu	37	8	28574932	28574932	+	Silent	SNP	C	C	T	rs200003224		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:28574932C>T	ENST00000220562.4	+	3	2258	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.F68F	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	452					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CACGGCTCTTCGAAGCCCTGG	0.627																																																	0													58.0	60.0	59.0					8																	28574932		2203	4300	6503	SO:0001819	synonymous_variant	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1356C>T	8.37:g.28574932C>T			D3DST8|O00225|Q53XT3	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.F452	ENST00000220562.4	37	c.1356	CCDS6070.1	8																																																																																			EXTL3	-	pfam_Exostosin		0.627	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	C	NM_001440		28574932	+1	no_errors	ENST00000220562	ensembl	human	known	70_37	silent	SNP	0.691	T
F8	2157	genome.wustl.edu	37	X	154066021	154066021	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:154066021G>C	ENST00000360256.4	-	26	7107	c.6907C>G	c.(6907-6909)Cag>Gag	p.Q2303E	F8_ENST00000330287.6_Missense_Mutation_p.Q168E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2303	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGATTTCCCTGAAAAACCTGA	0.463																																																	0			GRCh37	CM074161	F8	M							59.0	54.0	56.0					X																	154066021		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6907C>G	X.37:g.154066021G>C	ENSP00000353393:p.Gln2303Glu		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q2303E	ENST00000360256.4	37	c.6907	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312754	0.23908	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98105	-4.72;-4.72	4.74	1.43	0.22495	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.554280	0.17889	N	0.158562	D	0.92254	0.7543	L	0.28694	0.88	0.30296	N	0.789886	B;B	0.22003	0.063;0.003	B;B	0.22880	0.042;0.002	D	0.83626	0.0142	10	0.07325	T	0.83	-5.6495	5.5739	0.17212	0.1097:0.0:0.5324:0.3579	.	2303;168	P00451;Q14286	FA8_HUMAN;.	E	168;2303	ENSP00000327895:Q168E;ENSP00000353393:Q2303E	ENSP00000327895:Q168E	Q	-	1	0	F8	153719215	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.280000	0.33202	0.259000	0.21709	0.526000	0.51066	CAG	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154066021	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.986	C
FAM168A	23201	genome.wustl.edu	37	11	73122475	73122475	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:73122475G>C	ENST00000064778.4	-	6	695	c.411C>G	c.(409-411)atC>atG	p.I137M	FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000542598.1_RNA|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000356467.4_Missense_Mutation_p.I128M			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	137										endometrium(3)|kidney(1)|lung(1)	5						AGGCACTTCTGATTGGATACA	0.577																																																	0													96.0	93.0	94.0					11																	73122475		1884	4095	5979	SO:0001583	missense	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"""tongue cancer chemotherapy resistance-associated protein 1"""		"""KIAA0280"""	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.411C>G	11.37:g.73122475G>C	ENSP00000064778:p.Ile137Met		A2ICY2|A2ID81|Q86UG2	Missense_Mutation	SNP	NULL	p.I137M	ENST00000064778.4	37	c.411		11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047209	0.75846	.	.	ENSG00000054965	ENST00000064778;ENST00000356467	.	.	.	5.73	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.57899	0.981;0.981	P;P	0.50934	0.654;0.654	T	0.60151	-0.7319	9	0.45353	T	0.12	.	14.7266	0.69349	0.0812:0.0:0.9188:0.0	.	137;128	Q92567;Q92567-2	F168A_HUMAN;.	M	137;128	.	ENSP00000064778:I137M	I	-	3	3	FAM168A	72800123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.710000	0.92621	0.650000	0.86243	ATC	FAM168A	-	NULL		0.577	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	HGNC	protein_coding	OTTHUMT00000397424.1	G	NM_015159		73122475	-1	no_errors	ENST00000064778	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM179A	165186	genome.wustl.edu	37	2	29225481	29225481	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:29225481G>C	ENST00000379558.4	+	5	858	c.507G>C	c.(505-507)ctG>ctC	p.L169L	FAM179A_ENST00000403861.2_Silent_p.L169L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	169										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGGCTGCTGAGGGTGCCCA	0.657																																																	0													23.0	28.0	27.0					2																	29225481		1953	4146	6099	SO:0001819	synonymous_variant	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.507G>C	2.37:g.29225481G>C			Q6ZUF5	Silent	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.L169	ENST00000379558.4	37	c.507	CCDS1769.2	2																																																																																			FAM179A	-	NULL		0.657	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	G	NM_199280		29225481	+1	no_errors	ENST00000379558	ensembl	human	known	70_37	silent	SNP	0.508	C
FAM208B	54906	genome.wustl.edu	37	10	5782322	5782322	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:5782322C>A	ENST00000328090.5	+	13	2814	c.2189C>A	c.(2188-2190)tCt>tAt	p.S730Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	730																	GTGAAAAAATCTTCTTGCTCT	0.473																																																	0													74.0	71.0	72.0					10																	5782322		1929	4134	6063	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2189C>A	10.37:g.5782322C>A	ENSP00000328426:p.Ser730Tyr		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S730Y	ENST00000328090.5	37	c.2189	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277924	0.00254	.	.	ENSG00000108021	ENST00000328090	T	0.04406	3.63	5.63	1.97	0.26223	.	0.828280	0.10744	N	0.639083	T	0.04679	0.0127	L	0.44542	1.39	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.43540	-0.9385	10	0.33940	T	0.23	.	4.9799	0.14160	0.0:0.2298:0.1453:0.6249	.	730	Q5VWN6	F208B_HUMAN	Y	730	ENSP00000328426:S730Y	ENSP00000328426:S730Y	S	+	2	0	C10orf18	5822328	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.861000	0.27885	0.084000	0.17077	-0.469000	0.05056	TCT	FAM208B	-	NULL		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5782322	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM227B	196951	genome.wustl.edu	37	15	49860490	49860490	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:49860490C>T	ENST00000299338.6	-	9	1002	c.699G>A	c.(697-699)gtG>gtA	p.V233V	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	233																	TGAAAAGTGTCACATAACTTT	0.284																																																	0													70.0	67.0	68.0					15																	49860490		2194	4294	6488	SO:0001819	synonymous_variant	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.699G>A	15.37:g.49860490C>T			Q86WS2	Silent	SNP	NULL	p.V233	ENST00000299338.6	37	c.699	CCDS32237.1	15																																																																																			FAM227B	-	NULL		0.284	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	C	NM_152647		49860490	-1	no_errors	ENST00000299338	ensembl	human	known	70_37	silent	SNP	0.966	T
FAM83G	644815	genome.wustl.edu	37	17	18882047	18882047	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:18882047C>G	ENST00000388995.6	-	5	1155	c.932G>C	c.(931-933)aGc>aCc	p.S311T	FAM83G_ENST00000345041.4_Missense_Mutation_p.S311T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S311T|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	311					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCCCTTGAGGCTCACACTGTG	0.617																																																	0																																										SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.932G>C	17.37:g.18882047C>G	ENSP00000373647:p.Ser311Thr		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.S311T	ENST00000388995.6	37	c.932	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904296	0.33628	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.22134	1.97;1.97	4.96	2.97	0.34412	.	0.293259	0.38272	N	0.001755	T	0.22475	0.0542	M	0.66939	2.045	0.28365	N	0.920263	P	0.40909	0.732	B	0.37888	0.26	T	0.07501	-1.0769	10	0.45353	T	0.12	-19.3176	11.2004	0.48739	0.0:0.8496:0.0:0.1504	.	311	A6ND36	FA83G_HUMAN	T	311	ENSP00000373647:S311T;ENSP00000343279:S311T	ENSP00000343279:S311T	S	-	2	0	FAM83G	18822772	1.000000	0.71417	0.924000	0.36721	0.654000	0.38779	3.901000	0.56303	0.509000	0.28195	0.313000	0.20887	AGC	FAM83G	-	NULL		0.617	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	C			18882047	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXO11	80204	genome.wustl.edu	37	2	48040408	48040408	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:48040408C>G	ENST00000403359.3	-	18	2264	c.2192G>C	c.(2191-2193)aGa>aCa	p.R731T	FBXO11_ENST00000434523.2_Missense_Mutation_p.R155T|FBXO11_ENST00000316377.4_Missense_Mutation_p.R647T|FBXO11_ENST00000402508.1_Missense_Mutation_p.R647T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	731					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCACCATCTCTTCCATCATG	0.333			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											138.0	143.0	141.0					2																	48040408		2203	4299	6502	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2192G>C	2.37:g.48040408C>G	ENSP00000384823:p.Arg731Thr		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.R731T	ENST00000403359.3	37	c.2192	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.220203|5.220203	0.95139|0.95139	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	.|T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86477|0.86477	0.5942|0.5942	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.985	.|P;D	.|0.63381	.|0.869;0.914	D|D	0.87535|0.87535	0.2455|0.2455	5|10	.|0.72032	.|D	.|0.01	-6.6464|-6.6464	19.1978|19.1978	0.93696|0.93696	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|155;731	.|B3KUR1;Q86XK2	.|.;FBX11_HUMAN	N|T	522|647;731;647;155	.|ENSP00000385398:R647T;ENSP00000384823:R731T;ENSP00000323822:R647T;ENSP00000397359:R155T	.|ENSP00000323822:R647T	K|R	-|-	3|2	2|0	FBXO11|FBXO11	47893912|47893912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	AAG|AGA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48040408	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXO9	26268	genome.wustl.edu	37	6	52935903	52935903	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:52935903G>A	ENST00000244426.6	+	1	254	c.82G>A	c.(82-84)Gat>Aat	p.D28N	FBXO9_ENST00000323557.7_Missense_Mutation_p.D18N|FBXO9_ENST00000370939.3_De_novo_Start_OutOfFrame	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	28					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGCAGATGATGATGAAGAAAA	0.403																																																	0													96.0	90.0	92.0					6																	52935903		1884	4100	5984	SO:0001583	missense	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.82G>A	6.37:g.52935903G>A	ENSP00000244426:p.Asp28Asn		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D28N	ENST00000244426.6	37	c.82	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506641	0.64410	.	.	ENSG00000112146	ENST00000323557;ENST00000244426	T;T	0.79352	-1.22;-1.26	5.88	5.88	0.94601	.	0.441905	0.25222	N	0.032224	T	0.61912	0.2385	L	0.46157	1.445	0.28478	N	0.915086	B;P	0.48230	0.144;0.907	B;B	0.37780	0.04;0.258	T	0.65817	-0.6076	10	0.52906	T	0.07	-18.4842	17.7319	0.88380	0.0:0.0:1.0:0.0	.	18;135	Q9UK97-2;Q59EH8	.;.	N	18;28	ENSP00000326968:D18N;ENSP00000244426:D28N	ENSP00000244426:D28N	D	+	1	0	FBXO9	53043862	1.000000	0.71417	0.922000	0.36590	0.976000	0.68499	6.753000	0.74904	2.779000	0.95612	0.650000	0.86243	GAT	FBXO9	-	NULL		0.403	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	G			52935903	+1	no_errors	ENST00000244426	ensembl	human	known	70_37	missense	SNP	1.000	A
FER	2241	genome.wustl.edu	37	5	108168644	108168644	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:108168644G>T	ENST00000281092.4	+	4	765	c.381G>T	c.(379-381)aaG>aaT	p.K127N	FER_ENST00000536402.1_Splice_Site_p.K127N|FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	127	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGATGATCAAGGTTCGTTTTT	0.348																																					Colon(146;1051 1799 9836 27344 47401)												0													153.0	137.0	142.0					5																	108168644		2202	4300	6502	SO:0001630	splice_region_variant	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.381+1G>T	5.37:g.108168644G>T			B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.K127N	ENST00000281092.4	37	c.381	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814753	0.90790	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.47869	0.83;0.83	6.11	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.69946	-0.5007	10	0.72032	D	0.01	-12.9027	15.6639	0.77209	0.0656:0.0:0.9344:0.0	.	127;127	Q6PEJ9;P16591	.;FER_HUMAN	N	127	ENSP00000281092:K127N;ENSP00000442627:K127N	ENSP00000281092:K127N	K	+	3	2	FER	108196543	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.655000	0.91098	1.596000	0.50062	0.655000	0.94253	AAG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246	Missense_Mutation	108168644	+1	no_errors	ENST00000281092	ensembl	human	known	70_37	missense	SNP	1.000	T
FEZ1	9638	genome.wustl.edu	37	11	125315969	125315969	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:125315969G>A	ENST00000278919.3	-	0	1435				FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCCTGCAGCGAGGCTGCTCC	0.537																																					Melanoma(180;509 2033 10762 15939 24711)												0													175.0	145.0	155.0					11																	125315969		2201	4299	6500	SO:0001624	3_prime_UTR_variant	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.*22C>T	11.37:g.125315969G>A			O00679|O00728|Q6IBI7	RNA	SNP	-	NULL	ENST00000278919.3	37	NULL	CCDS31716.1	11																																																																																			FEZ1	-	-		0.537	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	G	NM_005103		125315969	-1	no_errors	ENST00000526507	ensembl	human	known	70_37	rna	SNP	0.151	A
FLG	2312	genome.wustl.edu	37	1	152275379	152275379	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152275379G>C	ENST00000368799.1	-	3	12018	c.11983C>G	c.(11983-11985)Cag>Gag	p.Q3995E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3995					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)			CTTCCGTGCTGAGAGTGTCTA	0.408									Ichthyosis																																								0													140.0	125.0	130.0					1																	152275379		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.11983C>G	1.37:g.152275379G>C	ENSP00000357789:p.Gln3995Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q3995E	ENST00000368799.1	37	c.11983	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160244	0.09287	.	.	ENSG00000143631	ENST00000368799	T	0.00666	5.91	4.05	-7.05	0.01573	.	.	.	.	.	T	0.00210	0.0006	L	0.36672	1.1	0.09310	N	1	P	0.37864	0.61	B	0.31751	0.135	T	0.45425	-0.9262	9	0.20046	T	0.44	.	5.3626	0.16095	0.0879:0.1124:0.1534:0.6464	.	3995	P20930	FILA_HUMAN	E	3995	ENSP00000357789:Q3995E	ENSP00000357789:Q3995E	Q	-	1	0	FLG	150542003	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.138000	0.03216	-1.128000	0.02922	-0.175000	0.13238	CAG	FLG	-	NULL		0.408	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152275379	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152276263	152276263	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152276263G>A	ENST00000368799.1	-	3	11134	c.11099C>T	c.(11098-11100)tCa>tTa	p.S3700L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3700	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)			CCTTCCTGCTGACCGGCCACG	0.592									Ichthyosis																																								0													78.0	83.0	82.0					1																	152276263		2203	4297	6500	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.11099C>T	1.37:g.152276263G>A	ENSP00000357789:p.Ser3700Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3700L	ENST00000368799.1	37	c.11099	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358112	0.24598	.	.	ENSG00000143631	ENST00000368799	T	0.02197	4.4	2.14	1.16	0.20824	.	.	.	.	.	T	0.02342	0.0072	M	0.78916	2.43	0.09310	N	1	D	0.65815	0.995	P	0.58013	0.831	T	0.42085	-0.9472	9	0.16420	T	0.52	.	5.8019	0.18417	0.0:0.0:0.6842:0.3158	.	3700	P20930	FILA_HUMAN	L	3700	ENSP00000357789:S3700L	ENSP00000357789:S3700L	S	-	2	0	FLG	150542887	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.288000	0.18939	0.417000	0.25871	0.552000	0.68991	TCA	FLG	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152276263	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A
FLJ12825	440101	genome.wustl.edu	37	12	54515536	54515536	+	lincRNA	DEL	C	C	-	rs112977992		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:54515536delC	ENST00000515617.1	+	0	3460				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						CCATCCCCTACCCCAATCAGG	0.517																																																	0																																												440101																															12.37:g.54515536delC				RNA	DEL	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.3	-	-		0.517	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1	C			54515536	+1	no_errors	ENST00000515617	ensembl	human	known	70_37	rna	DEL	0.006	-
FLNA	2316	genome.wustl.edu	37	X	153599551	153599551	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153599551G>C	ENST00000369850.3	-	2	299	c.63C>G	c.(61-63)gtC>gtG	p.V21V	FLNA_ENST00000360319.4_Silent_p.V21V|FLNA_ENST00000422373.1_Silent_p.V21V|FLNA_ENST00000344736.4_Silent_p.V21V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	21	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGTGTCGACGCCGCCGC	0.706																																																	0													13.0	13.0	13.0					X																	153599551		2157	4243	6400	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.63C>G	X.37:g.153599551G>C			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V21	ENST00000369850.3	37	c.63	CCDS48194.1	X																																																																																			FLNA	-	NULL		0.706	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153599551	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	0.000	C
FMOD	2331	genome.wustl.edu	37	1	203316850	203316850	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:203316850G>A	ENST00000354955.4	-	2	1012	c.549C>T	c.(547-549)ctC>ctT	p.L183L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	183					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTTGTGGTCGAGATGGAGCT	0.592																																																	0													132.0	134.0	133.0					1																	203316850		2203	4300	6503	SO:0001819	synonymous_variant	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.549C>T	1.37:g.203316850G>A			Q15331|Q8IV47	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L183	ENST00000354955.4	37	c.549	CCDS30976.1	1																																																																																			FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.592	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	G	NM_002023		203316850	-1	no_errors	ENST00000354955	ensembl	human	known	70_37	silent	SNP	0.000	A
FMR1	2332	genome.wustl.edu	37	X	147026442	147026442	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:147026442G>A	ENST00000370475.4	+	15	1653	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	FMR1_ENST00000370471.3_Intron|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000440235.2_Missense_Mutation_p.E156K|FMR1_ENST00000439526.2_Missense_Mutation_p.E486K|FMR1_ENST00000370477.1_Missense_Mutation_p.E476K|FMR1_ENST00000218200.8_Missense_Mutation_p.E488K|FMR1_ENST00000370470.1_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	509	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGAGACGAACTCAGTGA	0.463									Fragile X syndrome																																								0													57.0	50.0	53.0					X																	147026442		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1525G>A	X.37:g.147026442G>A	ENSP00000359506:p.Glu509Lys		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.E509K	ENST00000370475.4	37	c.1525	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465524	0.84425	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.96	5.96	0.96718	.	0.044341	0.85682	N	0.000000	T	0.71484	0.3345	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.998;0.998;0.992	T	0.71899	-0.4453	10	0.56958	D	0.05	-27.6323	18.1588	0.89702	0.0:0.0:1.0:0.0	.	156;509;404;486	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	K	488;476;509;486;156	ENSP00000218200:E488K;ENSP00000359508:E476K;ENSP00000359506:E509K;ENSP00000395923:E486K;ENSP00000413764:E156K	ENSP00000218200:E488K	E	+	1	0	FMR1	146834134	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.130000	0.94437	2.512000	0.84698	0.594000	0.82650	GAA	FMR1	-	pfam_Frag_X_MRP_fam		0.463	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	G	NM_002024		147026442	+1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	A
FNDC3B	64778	genome.wustl.edu	37	3	171969126	171969126	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:171969126G>A	ENST00000336824.4	+	6	684	c.585G>A	c.(583-585)ctG>ctA	p.L195L	FNDC3B_ENST00000416957.1_Silent_p.L195L|FNDC3B_ENST00000415807.2_Silent_p.L195L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	195					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAAAAAACTGAAAGACCGCC	0.448																																																	0													63.0	65.0	65.0					3																	171969126		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.585G>A	3.37:g.171969126G>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L195	ENST00000336824.4	37	c.585	CCDS3217.1	3																																																																																			FNDC3B	-	NULL		0.448	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		171969126	+1	no_errors	ENST00000336824	ensembl	human	known	70_37	silent	SNP	0.995	A
FNIP2	57600	genome.wustl.edu	37	4	159789970	159789970	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:159789970G>C	ENST00000264433.6	+	13	2257	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.E751Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	728	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGCATCTCCAGAGTCTGACTT	0.557																																																	0													65.0	69.0	67.0					4																	159789970		1871	4104	5975	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2182G>C	4.37:g.159789970G>C	ENSP00000264433:p.Glu728Gln		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.E751Q	ENST00000264433.6	37	c.2251	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068104	0.76301	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.32023	1.48;1.47	5.51	5.51	0.81932	.	0.119623	0.56097	D	0.000035	T	0.54481	0.1861	M	0.75447	2.3	0.35699	D	0.815441	D	0.76494	0.999	D	0.70487	0.969	T	0.63386	-0.6649	9	.	.	.	.	14.6013	0.68443	0.0:0.0:0.8541:0.1459	.	728	Q9P278	FNIP2_HUMAN	Q	728;751	ENSP00000264433:E728Q;ENSP00000368651:E751Q	.	E	+	1	0	FNIP2	160009420	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	8.391000	0.90177	2.746000	0.94184	0.655000	0.94253	GAG	FNIP2	-	NULL		0.557	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	G	NM_020840		159789970	+1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	C
FOSL2	2355	genome.wustl.edu	37	2	28616645	28616645	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:28616645C>G	ENST00000264716.4	+	1	921	c.58C>G	c.(58-60)Cct>Gct	p.P20A	AC104695.3_ENST00000445878.1_RNA|FOSL2_ENST00000379619.1_Intron|FOSL2_ENST00000545753.1_5'Flank|FOSL2_ENST00000460736.1_Intron|AC104695.3_ENST00000427929.1_RNA	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	20					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCGGCTCTCCTGCGCACGC	0.692																																																	0													13.0	14.0	14.0					2																	28616645		2198	4292	6490	SO:0001583	missense	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.58C>G	2.37:g.28616645C>G	ENSP00000264716:p.Pro20Ala		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.P20A	ENST00000264716.4	37	c.58	CCDS1766.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655194	0.88056	.	.	ENSG00000075426	ENST00000264716	T	0.64438	-0.1	4.8	4.8	0.61643	.	0.142160	0.49305	D	0.000160	T	0.73697	0.3620	M	0.79123	2.44	0.80722	D	1	D	0.61697	0.99	P	0.54629	0.757	T	0.74569	-0.3622	10	0.33141	T	0.24	-5.2875	16.6134	0.84900	0.0:1.0:0.0:0.0	.	20	P15408	FOSL2_HUMAN	A	20	ENSP00000264716:P20A	ENSP00000264716:P20A	P	+	1	0	FOSL2	28470149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.491000	0.73649	2.198000	0.70561	0.448000	0.29417	CCT	FOSL2	-	NULL		0.692	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2	C	NM_005253		28616645	+1	no_errors	ENST00000264716	ensembl	human	known	70_37	missense	SNP	1.000	G
FRMPD4	9758	genome.wustl.edu	37	X	12736237	12736237	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:12736237G>A	ENST00000380682.1	+	16	3798	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1098					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						TGTGGCCACTGAAGGTGGGAT	0.488																																																	0													135.0	135.0	135.0					X																	12736237		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.3292G>A	X.37:g.12736237G>A	ENSP00000370057:p.Glu1098Lys		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.E1098K	ENST00000380682.1	37	c.3292	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562654	0.27915	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06849	3.25	5.49	5.49	0.81192	.	0.373533	0.30714	N	0.009031	T	0.10165	0.0249	L	0.51422	1.61	0.32548	N	0.53275	B;B	0.32717	0.102;0.381	B;B	0.26969	0.034;0.075	T	0.08006	-1.0743	10	0.24483	T	0.36	-6.4367	18.464	0.90749	0.0:0.0:1.0:0.0	.	1090;1098	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	1098;1089;1087	ENSP00000370057:E1098K	ENSP00000304583:E1087K	E	+	1	0	FRMPD4	12646158	1.000000	0.71417	0.471000	0.27229	0.113000	0.19764	7.304000	0.78882	2.301000	0.77427	0.600000	0.82982	GAA	FRMPD4	-	NULL		0.488	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	G	XM_045712		12736237	+1	no_errors	ENST00000380682	ensembl	human	known	70_37	missense	SNP	0.980	A
FTH1P3	2498	genome.wustl.edu	37	5	17354209	17354209	+	lincRNA	SNP	T	T	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:17354209T>C	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							TTCACATTTTTTTCCAAATGT	0.463																																																	0																																												2502																															5.37:g.17354209T>C				RNA	SNP	-	NULL	ENST00000511821.1	37	NULL		5																																																																																			FTH1P10	-	-		0.463	CTD-2139B15.2-001	KNOWN	basic	lincRNA	FTH1P10	HGNC	lincRNA	OTTHUMT00000366261.1	T			17354209	-1	no_errors	ENST00000401830	ensembl	human	known	70_37	rna	SNP	1.000	C
G3BP1	10146	genome.wustl.edu	37	5	151175052	151175052	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:151175052A>T	ENST00000394123.3	+	6	600	c.455A>T	c.(454-456)gAa>gTa	p.E152V	G3BP1_ENST00000543466.1_De_novo_Start_OutOfFrame|G3BP1_ENST00000356245.3_Missense_Mutation_p.E152V			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	152	Glu-rich.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCTGAAGAAGAAGTAGAGGAA	0.353																																																	0													139.0	148.0	145.0					5																	151175052		2203	4300	6503	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.455A>T	5.37:g.151175052A>T	ENSP00000377681:p.Glu152Val		Q5HYE9	Nonsense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.K122*	ENST00000394123.3	37	c.364	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633703	0.87660	.	.	ENSG00000145907	ENST00000394123;ENST00000356245;ENST00000274596	T;T	0.74315	-0.83;-0.83	4.99	4.99	0.66335	.	0.100321	0.64402	D	0.000003	T	0.81777	0.4894	M	0.62016	1.91	0.80722	D	1	D	0.63880	0.993	P	0.60949	0.881	T	0.81086	-0.1092	10	0.35671	T	0.21	-11.6796	15.002	0.71479	1.0:0.0:0.0:0.0	.	152	Q13283	G3BP1_HUMAN	V	152;152;60	ENSP00000377681:E152V;ENSP00000348578:E152V	ENSP00000274596:E60V	E	+	2	0	G3BP1	151155245	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.256000	0.78350	2.004000	0.58718	0.454000	0.30748	GAA	G3BP1	-	pfscan_Nuclear_transport_factor_2_euk		0.353	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	A	NM_005754		151175052	+1	no_errors	ENST00000520177	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GAB1	2549	genome.wustl.edu	37	4	144380582	144380582	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:144380582G>C	ENST00000262994.4	+	7	1932	c.1630G>C	c.(1630-1632)Gaa>Caa	p.E544Q	GAB1_ENST00000262995.4_Missense_Mutation_p.E574Q|GAB1_ENST00000505913.1_Missense_Mutation_p.E441Q	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	544					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGAATGGGAAGAATTACAAGC	0.353																																																	0													149.0	163.0	158.0					4																	144380582		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1630G>C	4.37:g.144380582G>C	ENSP00000262994:p.Glu544Gln		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E574Q	ENST00000262994.4	37	c.1720	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.409708	0.96072	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.30182	2.2;1.54;1.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.66674	-0.5864	10	0.87932	D	0	-2.6433	20.5666	0.99351	0.0:0.0:1.0:0.0	.	544;574	Q13480;Q13480-2	GAB1_HUMAN;.	Q	574;544;441	ENSP00000262995:E574Q;ENSP00000262994:E544Q;ENSP00000424554:E441Q	ENSP00000262994:E544Q	E	+	1	0	GAB1	144600032	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	9.434000	0.97515	2.854000	0.98071	0.655000	0.94253	GAA	GAB1	-	NULL		0.353	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	G	NM_002039		144380582	+1	no_errors	ENST00000262995	ensembl	human	known	70_37	missense	SNP	1.000	C
GAD1	2571	genome.wustl.edu	37	2	171702015	171702015	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:171702015G>A	ENST00000358196.3	+	8	1301		c.e8-1			NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)						gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTTGCTGACAGGGGGCGCCAT	0.512																																																	0													89.0	90.0	89.0					2																	171702015		2203	4300	6503	SO:0001630	splice_region_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.752-1G>A	2.37:g.171702015G>A			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Splice_Site	SNP	-	e7-1	ENST00000358196.3	37	c.752-1	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316743	0.81469	.	.	ENSG00000128683	ENST00000358196	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7657	0.96340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAD1	171410261	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	.	GAD1	-	-		0.512	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	G		Intron	171702015	+1	no_errors	ENST00000358196	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GALNT11	63917	genome.wustl.edu	37	7	151802441	151802441	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:151802441C>T	ENST00000434507.1	+	7	1135	c.698C>T	c.(697-699)gCg>gTg	p.A233V	GALNT11_ENST00000452146.2_Missense_Mutation_p.A152V|GALNT11_ENST00000430044.2_Missense_Mutation_p.A233V|GALNT11_ENST00000320311.2_Missense_Mutation_p.A233V|GALNT11_ENST00000422997.2_3'UTR			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	233	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGATTGGCGCGGCCCACGCG	0.473																																																	0													99.0	96.0	97.0					7																	151802441		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.698C>T	7.37:g.151802441C>T	ENSP00000416787:p.Ala233Val		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A233V	ENST00000434507.1	37	c.698	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386541	0.82902	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.06	5.06	0.68205	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79458	-0.1795	10	0.87932	D	0	.	18.4403	0.90664	0.0:1.0:0.0:0.0	.	152;233	B7Z5G5;Q8NCW6	.;GLT11_HUMAN	V	233;152;233;233;233	ENSP00000395122:A233V;ENSP00000393399:A152V;ENSP00000416787:A233V;ENSP00000315835:A233V	ENSP00000315835:A233V	A	+	2	0	GALNT11	151433374	1.000000	0.71417	0.944000	0.38274	0.384000	0.30261	7.374000	0.79633	2.341000	0.79615	0.650000	0.86243	GCG	GALNT11	-	pfam_Glyco_trans_2		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	C	NM_022087		151802441	+1	no_errors	ENST00000320311	ensembl	human	known	70_37	missense	SNP	1.000	T
GCC2	9648	genome.wustl.edu	37	2	109086905	109086905	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:109086905G>C	ENST00000309863.6	+	6	1834	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	374					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACATATAAAGGATGAGTTTTT	0.279																																																	0													50.0	55.0	54.0					2																	109086905		2079	4246	6325	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1120G>C	2.37:g.109086905G>C	ENSP00000307939:p.Asp374His		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.D374H	ENST00000309863.6	37	c.1120	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064605	0.55432	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.36157	1.27	5.8	5.8	0.92144	.	0.061186	0.64402	D	0.000004	T	0.40932	0.1137	N	0.19112	0.55	0.42132	D	0.991472	D	0.76494	0.999	P	0.61397	0.888	T	0.22556	-1.0213	10	0.45353	T	0.12	.	13.2776	0.60196	0.0723:0.0:0.9277:0.0	.	374	Q8IWJ2	GCC2_HUMAN	H	374;374;337;119	ENSP00000307939:D374H	ENSP00000307939:D374H	D	+	1	0	GCC2	108453337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.625000	0.74248	2.737000	0.93849	0.563000	0.77884	GAT	GCC2	-	NULL		0.279	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109086905	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	1.000	C
GDPD4	220032	genome.wustl.edu	37	11	76956345	76956345	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:76956345G>C	ENST00000376217.2	-	11	1317	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	GDPD4_ENST00000315938.4_Missense_Mutation_p.S356C			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	356	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGATTTTAGAGGCAAGGAT	0.433																																																	0													198.0	175.0	183.0					11																	76956345		2200	4292	6492	SO:0001583	missense	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1067C>G	11.37:g.76956345G>C	ENSP00000365390:p.Ser356Cys		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S356C	ENST00000376217.2	37	c.1067		11	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652194	0.29336	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.11712	2.75;2.75	4.78	3.86	0.44501	.	0.325326	0.33534	N	0.004803	T	0.32675	0.0837	M	0.83774	2.66	0.20873	N	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.03761	-1.1006	10	0.72032	D	0.01	-30.3076	10.5239	0.44936	0.0951:0.0:0.9049:0.0	.	356	Q6W3E5-2	.	C	356	ENSP00000365390:S356C;ENSP00000320815:S356C	ENSP00000320815:S356C	S	-	2	0	GDPD4	76633993	0.727000	0.28069	0.975000	0.42487	0.100000	0.18952	3.461000	0.53035	2.635000	0.89317	0.655000	0.94253	TCT	GDPD4	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	G	NM_182833		76956345	-1	no_errors	ENST00000376217	ensembl	human	known	70_37	missense	SNP	0.381	C
GFRA2	2675	genome.wustl.edu	37	8	21563461	21563461	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:21563461G>C	ENST00000524240.1	-	5	1537	c.887C>G	c.(886-888)tCt>tGt	p.S296C	GFRA2_ENST00000517328.1_Missense_Mutation_p.S296C|GFRA2_ENST00000400782.4_Missense_Mutation_p.S191C|GFRA2_ENST00000518077.1_Missense_Mutation_p.S163C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	296					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCAGCATAAGAGCCCAGACA	0.632																																																	0													44.0	48.0	47.0					8																	21563461		2005	4158	6163	SO:0001583	missense	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.887C>G	8.37:g.21563461G>C	ENSP00000428518:p.Ser296Cys		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.S296C	ENST00000524240.1	37	c.887	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323483	0.81580	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.46	5.46	0.80206	GDNF/GAS1 (2);	0.052219	0.85682	D	0.000000	T	0.78541	0.4299	M	0.70275	2.135	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.995	T	0.80645	-0.1290	10	0.87932	D	0	-32.3269	16.2325	0.82356	0.0:0.0:1.0:0.0	.	163;191;296	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	C	296;191;296;163;191	ENSP00000428518:S296C;ENSP00000383592:S191C;ENSP00000429445:S296C;ENSP00000429206:S163C;ENSP00000429979:S191C	ENSP00000383592:S191C	S	-	2	0	GFRA2	21607741	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.862000	0.87013	2.551000	0.86045	0.655000	0.94253	TCT	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt		0.632	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	G	NM_001495		21563461	-1	no_errors	ENST00000517328	ensembl	human	known	70_37	missense	SNP	1.000	C
GGN	199720	genome.wustl.edu	37	19	38875118	38875118	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:38875118G>C	ENST00000334928.6	-	4	2025	c.1893C>G	c.(1891-1893)atC>atG	p.I631M	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	631	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGACAGCTTGATGGTGGCAA	0.617																																																	0													113.0	97.0	103.0					19																	38875118		2203	4300	6503	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1893C>G	19.37:g.38875118G>C	ENSP00000334940:p.Ile631Met		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.I631M	ENST00000334928.6	37	c.1893	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891847	0.72524	.	.	ENSG00000179168	ENST00000334928	.	.	.	4.59	4.59	0.56863	.	0.396497	0.18454	N	0.140729	T	0.48786	0.1519	N	0.24115	0.695	0.29764	N	0.835323	D	0.69078	0.997	D	0.71870	0.975	T	0.47598	-0.9105	9	0.72032	D	0.01	-8.9628	12.7957	0.57558	0.0:0.0:1.0:0.0	.	631	Q86UU5	GGN_HUMAN	M	631	.	ENSP00000334940:I631M	I	-	3	3	GGN	43566958	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.171000	0.50824	2.369000	0.80426	0.643000	0.83706	ATC	GGN	-	NULL		0.617	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	G	NM_152657		38875118	-1	no_errors	ENST00000334928	ensembl	human	known	70_37	missense	SNP	1.000	C
GLIS1	148979	genome.wustl.edu	37	1	53974848	53974848	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:53974848G>C	ENST00000312233.2	-	9	2216	c.1650C>G	c.(1648-1650)ttC>ttG	p.F550L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCAGGGGGTTGAAACCGTGGG	0.662																																																	0													50.0	41.0	44.0					1																	53974848		2200	4299	6499	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1650C>G	1.37:g.53974848G>C	ENSP00000309653:p.Phe550Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F550L	ENST00000312233.2	37	c.1650	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035618	0.54896	.	.	ENSG00000174332	ENST00000312233	T	0.11604	2.76	3.94	3.01	0.34805	.	0.000000	0.53938	D	0.000056	T	0.08313	0.0207	L	0.34521	1.04	0.40552	D	0.981129	P	0.48089	0.905	B	0.44224	0.444	T	0.33624	-0.9861	10	0.29301	T	0.29	.	5.5447	0.17057	0.1095:0.2064:0.6841:0.0	.	550	Q8NBF1	GLIS1_HUMAN	L	550	ENSP00000309653:F550L	ENSP00000309653:F550L	F	-	3	2	GLIS1	53747436	1.000000	0.71417	0.982000	0.44146	0.731000	0.41821	1.205000	0.32308	0.990000	0.38787	0.561000	0.74099	TTC	GLIS1	-	NULL		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53974848	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	0.998	C
GLRB	2743	genome.wustl.edu	37	4	158091757	158091757	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:158091757G>A	ENST00000264428.4	+	10	1641	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	GLRB_ENST00000509282.1_Silent_p.K457K|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000512619.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	457					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AGAACAACAAGAAGCCTCCCC	0.403																																																	0													116.0	115.0	115.0					4																	158091757		2203	4300	6503	SO:0001819	synonymous_variant	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1371G>A	4.37:g.158091757G>A			A8K3K2|D3DP23|F5GWE1	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K457	ENST00000264428.4	37	c.1371	CCDS3796.1	4																																																																																			GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.403	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158091757	+1	no_errors	ENST00000264428	ensembl	human	known	70_37	silent	SNP	1.000	A
GOLPH3L	55204	genome.wustl.edu	37	1	150667193	150667193	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:150667193G>C	ENST00000271732.3	-	2	166	c.122C>G	c.(121-123)tCt>tGt	p.S41C	GOLPH3L_ENST00000479757.1_5'UTR|GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S41C	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	41					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GATATCCTTAGAGTCTCCAGA	0.408																																																	0													182.0	161.0	168.0					1																	150667193		2203	4300	6503	SO:0001583	missense	55204			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.122C>G	1.37:g.150667193G>C	ENSP00000271732:p.Ser41Cys		B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	pfam_GPP34	p.S41C	ENST00000271732.3	37	c.122	CCDS966.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556074	0.86231	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.97	5.97	0.96955	.	0.069760	0.64402	D	0.000012	T	0.36826	0.0981	N	0.08118	0	0.47584	D	0.999462	D;B	0.58268	0.982;0.003	P;B	0.52514	0.701;0.003	T	0.45760	-0.9239	9	0.56958	D	0.05	-9.1682	17.9326	0.89002	0.0:0.0:1.0:0.0	.	41;41	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	C	41	.	ENSP00000271732:S41C	S	-	2	0	GOLPH3L	148933817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.874000	0.56101	2.836000	0.97738	0.655000	0.94253	TCT	GOLPH3L	-	pfam_GPP34		0.408	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3L	HGNC	protein_coding	OTTHUMT00000084734.1	G	NM_018178		150667193	-1	no_errors	ENST00000271732	ensembl	human	known	70_37	missense	SNP	1.000	C
SUPT7L	9913	genome.wustl.edu	37	2	27870730	27870730	+	IGR	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:27870730C>T	ENST00000337768.5	-	0	4488				GPN1_ENST00000503738.1_Missense_Mutation_p.S225F|GPN1_ENST00000407583.3_Missense_Mutation_p.S308F|GPN1_ENST00000424214.1_Missense_Mutation_p.S241F|GPN1_ENST00000610189.1_Missense_Mutation_p.S320F|GPN1_ENST00000458167.2_Missense_Mutation_p.S225F|GPN1_ENST00000264718.3_Missense_Mutation_p.S334F|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S241F	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCACCCTTCTGATTTGATC	0.463																																																	0													164.0	128.0	140.0					2																	27870730		2203	4300	6503	SO:0001628	intergenic_variant	11321			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947		2.37:g.27870730C>T			B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,smart_AAA+_ATPase	p.S334F	ENST00000337768.5	37	c.1001	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212269	0.79240	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T	0.47869	0.83;0.83	5.38	5.38	0.77491	.	0.107159	0.64402	D	0.000004	T	0.67116	0.2859	M	0.67953	2.075	0.58432	D	0.999991	D;P;D	0.65815	0.995;0.745;0.993	D;P;P	0.75484	0.986;0.526;0.855	T	0.68209	-0.5469	10	0.66056	D	0.02	-10.0753	15.9733	0.80036	0.0:1.0:0.0:0.0	.	334;225;308	B4DQM4;B4DXU4;B5MBZ5	.;.;.	F	241;225;225;241;308;334	ENSP00000384255:S308F;ENSP00000264718:S334F	ENSP00000264718:S334F	S	+	2	0	GPN1	27724234	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.268000	0.58883	2.800000	0.96347	0.643000	0.83706	TCT	GPN1	-	NULL		0.463	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000324568.1	C	NM_014860		27870730	+1	no_errors	ENST00000264718	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR42	2866	genome.wustl.edu	37	19	35863134	35863134	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:35863134G>A	ENST00000454971.1	+	2	1074	c.873G>A	c.(871-873)ctG>ctA	p.L291L	GPR42_ENST00000597214.1_Silent_p.L291L			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	291						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATGAGCTGCTGAGGAGGTTGT	0.602																																																	0													6.0	9.0	8.0					19																	35863134		1955	3732	5687	SO:0001819	synonymous_variant	2866			AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.873G>A	19.37:g.35863134G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.L291	ENST00000454971.1	37	c.873		19																																																																																			GPR42	-	NULL		0.602	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	G	NM_005305		35863134	+1	no_errors	ENST00000454971	ensembl	human	known	70_37	silent	SNP	0.024	A
GREB1	9687	genome.wustl.edu	37	2	11738894	11738894	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:11738894G>C	ENST00000381486.2	+	15	2541	c.2241G>C	c.(2239-2241)caG>caC	p.Q747H	GREB1_ENST00000234142.5_Missense_Mutation_p.Q747H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	747						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGAGGCACAGACAAAATTTA	0.463																																					Ovarian(39;850 945 2785 23371 33093)												0													188.0	189.0	188.0					2																	11738894		1947	4151	6098	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2241G>C	2.37:g.11738894G>C	ENSP00000370896:p.Gln747His		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.Q747H	ENST00000381486.2	37	c.2241	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	5.938	0.357049	0.11239	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.49432	3.1;3.1;0.78	5.16	1.22	0.21188	.	0.077265	0.53938	D	0.000044	T	0.43678	0.1258	L	0.41573	1.285	0.09310	N	0.999994	P;D	0.56035	0.955;0.974	P;P	0.53360	0.724;0.724	T	0.20605	-1.0270	10	0.42905	T	0.14	-34.3521	6.0841	0.19958	0.2543:0.2396:0.5061:0.0	.	381;747	C9JIG0;Q4ZG55	.;GREB1_HUMAN	H	747;747;381	ENSP00000370896:Q747H;ENSP00000234142:Q747H;ENSP00000403886:Q381H	ENSP00000234142:Q747H	Q	+	3	2	GREB1	11656345	1.000000	0.71417	0.008000	0.14137	0.197000	0.23852	1.232000	0.32636	0.552000	0.29026	-0.140000	0.14226	CAG	GREB1	-	NULL		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	G	NM_014668		11738894	+1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	0.084	C
GRID2	2895	genome.wustl.edu	37	4	93225802	93225802	+	5'UTR	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:93225802G>C	ENST00000282020.4	+	0	253				GRID2_ENST00000510992.1_5'Flank|RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCGGCATAGGAGGAGATGGA	0.453																																																	0													180.0	164.0	170.0					4																	93225802		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.-6G>C	4.37:g.93225802G>C			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	SNP	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-		0.453	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	G			93225802	+1	no_errors	ENST00000505687	ensembl	human	known	70_37	rna	SNP	0.556	C
GRIK5	2901	genome.wustl.edu	37	19	42506416	42506416	+	Intron	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42506416G>C	ENST00000262895.3	-	18	2514				GRIK5_ENST00000593562.1_Intron|GRIK5_ENST00000301218.4_Missense_Mutation_p.L933V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				gctgtaaagagaagggaagaa	0.542																																																	0																																										SO:0001627	intron_variant	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2514+1067C>G	19.37:g.42506416G>C			Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L933V	ENST00000262895.3	37	c.2797	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.965|6.965	0.548069|0.548069	0.13312|0.13312	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000301218|ENST00000454993	T|.	0.15017|.	2.46|.	1.68|1.68	-0.927|-0.927	0.10451|0.10451	.|.	0.974501|.	0.08303|.	U|.	0.966646|.	T|T	0.20659|0.20659	0.0497|0.0497	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24548|0.24548	-1.0157|-1.0157	7|4	0.26408|.	T|.	0.33|.	.|.	2.3603|2.3603	0.04306|0.04306	0.2004:0.0:0.4463:0.3533|0.2004:0.0:0.4463:0.3533	.|.	.|.	.|.	.|.	V|C	933|309	ENSP00000301218:L933V|.	ENSP00000301218:L933V|.	L|S	-|-	1|2	0|0	GRIK5|GRIK5	47198256|47198256	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.059000|0.059000	0.15707|0.15707	0.220000|0.220000	0.17660|0.17660	-0.206000|-0.206000	0.10203|0.10203	0.305000|0.305000	0.20034|0.20034	CTC|TCT	GRIK5	-	NULL		0.542	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42506416	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	missense	SNP	0.001	C
GSK3A	2931	genome.wustl.edu	37	19	42736279	42736279	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736279G>C	ENST00000222330.3	-	10	1435	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	GSK3A_ENST00000398249.4_Silent_p.L354L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GAATGGCGTTGAGAGACGGTT	0.532																																																	0													114.0	101.0	105.0					19																	42736279		2203	4300	6503	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1308C>G	19.37:g.42736279G>C			O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L436	ENST00000222330.3	37	c.1308	CCDS12599.1	19																																																																																			GSK3A	-	superfamily_Kinase-like_dom		0.532	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736279	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	1.000	C
GSK3A	2931	genome.wustl.edu	37	19	42736669	42736669	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736669G>C	ENST00000222330.3	-	9	1391	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V	GSK3A_ENST00000398249.4_Missense_Mutation_p.L340V	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	422					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AAGTTGAAGAGAGGGGGAAGT	0.587																																																	0													58.0	52.0	54.0					19																	42736669		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1264C>G	19.37:g.42736669G>C	ENSP00000222330:p.Leu422Val		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L422V	ENST00000222330.3	37	c.1264	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068317	0.76301	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.44083	0.93;0.93	5.12	5.12	0.69794	Protein kinase-like domain (1);	0.073658	0.56097	D	0.000038	T	0.53206	0.1782	M	0.88310	2.945	0.58432	D	0.999995	P;P	0.50617	0.937;0.462	B;B	0.44108	0.441;0.42	T	0.65463	-0.6162	10	0.87932	D	0	-26.7213	12.7806	0.57474	0.0:0.0:0.8358:0.1642	.	422;340	P49840;A8MT37	GSK3A_HUMAN;.	V	422;340;367	ENSP00000222330:L422V;ENSP00000381301:L340V	ENSP00000222330:L422V	L	-	1	0	GSK3A	47428509	1.000000	0.71417	0.985000	0.45067	0.841000	0.47740	6.989000	0.76219	2.569000	0.86673	0.561000	0.74099	CTC	GSK3A	-	superfamily_Kinase-like_dom		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736669	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.997	C
GSK3A	2931	genome.wustl.edu	37	19	42736791	42736791	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736791G>C	ENST00000222330.3	-	9	1269	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	GSK3A_ENST00000398249.4_Missense_Mutation_p.S299C	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CAGCAGGCTAGAGCAGAGCGC	0.597																																																	0													66.0	66.0	66.0					19																	42736791		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1142C>G	19.37:g.42736791G>C	ENSP00000222330:p.Ser381Cys		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S381C	ENST00000222330.3	37	c.1142	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901914	0.72754	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.66995	-0.24;-0.24	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.56396	1.775	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.78342	-0.2241	10	0.59425	D	0.04	-18.1132	12.7079	0.57073	0.0:0.28:0.72:0.0	.	381;299	P49840;A8MT37	GSK3A_HUMAN;.	C	381;299;326	ENSP00000222330:S381C;ENSP00000381301:S299C	ENSP00000222330:S381C	S	-	2	0	GSK3A	47428631	1.000000	0.71417	0.971000	0.41717	0.970000	0.65996	3.249000	0.51437	2.571000	0.86741	0.561000	0.74099	TCT	GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.597	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736791	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.991	C
GSK3A	2931	genome.wustl.edu	37	19	42736796	42736796	+	Silent	SNP	G	G	A	rs201590175		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736796G>A	ENST00000222330.3	-	9	1264	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	GSK3A_ENST00000398249.4_Silent_p.L297L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGCTAGAGCAGAGCGCGATGG	0.587																																																	0													65.0	64.0	64.0					19																	42736796		2203	4300	6503	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1137C>T	19.37:g.42736796G>A			O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L379	ENST00000222330.3	37	c.1137	CCDS12599.1	19																																																																																			GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736796	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	0.999	A
GSK3A	2931	genome.wustl.edu	37	19	42736812	42736812	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:42736812G>A	ENST00000222330.3	-	9	1248	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	GSK3A_ENST00000398249.4_Missense_Mutation_p.P292L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GATGGCCTCTGGCGGCGTTCG	0.582																																																	0													55.0	55.0	55.0					19																	42736812		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1121C>T	19.37:g.42736812G>A	ENSP00000222330:p.Pro374Leu		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P374L	ENST00000222330.3	37	c.1121	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401774	0.62288	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.65732	-0.17;-0.17	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065016	0.64402	D	0.000009	T	0.56016	0.1957	L	0.52011	1.625	0.80722	D	1	B;B	0.25048	0.117;0.005	B;B	0.25759	0.063;0.029	T	0.58329	-0.7655	10	0.62326	D	0.03	-19.1501	11.5671	0.50811	0.0877:0.0:0.9123:0.0	.	374;292	P49840;A8MT37	GSK3A_HUMAN;.	L	374;292;319	ENSP00000222330:P374L;ENSP00000381301:P292L	ENSP00000222330:P374L	P	-	2	0	GSK3A	47428652	1.000000	0.71417	0.635000	0.29338	0.993000	0.82548	4.128000	0.57951	2.468000	0.83385	0.561000	0.74099	CCA	GSK3A	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.582	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	G			42736812	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	missense	SNP	0.961	A
GTF2F2	2963	genome.wustl.edu	37	13	45841511	45841511	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:45841511G>T	ENST00000340473.6	+	7	771	c.630G>T	c.(628-630)gtG>gtT	p.V210V		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	210					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGCAACCTGTGGTATGTATAT	0.353																																																	0													131.0	135.0	134.0					13																	45841511		2203	4300	6503	SO:0001630	splice_region_variant	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.630+1G>T	13.37:g.45841511G>T			A6NNS5|Q5W0H3	Silent	SNP	pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr	p.V210	ENST00000340473.6	37	c.630	CCDS9395.1	13																																																																																			GTF2F2	-	pfam_TFIIF_beta,pirsf_TFIIF-beta_subgr		0.353	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F2	HGNC	protein_coding	OTTHUMT00000044767.2	G	NM_004128	Silent	45841511	+1	no_errors	ENST00000340473	ensembl	human	known	70_37	silent	SNP	1.000	T
GUCY1B3	2983	genome.wustl.edu	37	4	156711018	156711018	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:156711018C>T	ENST00000264424.8	+	5	532	c.450C>T	c.(448-450)atC>atT	p.I150I	GUCY1B3_ENST00000513437.1_Silent_p.I82I|GUCY1B3_ENST00000507146.1_Silent_p.I82I|GUCY1B3_ENST00000503520.1_Silent_p.I150I|GUCY1B3_ENST00000502959.1_Silent_p.I172I|GUCY1B3_ENST00000505764.1_Silent_p.I130I|GUCY1B3_ENST00000505154.1_Silent_p.I82I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	150					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTGGAATCATCAAAACAGTGG	0.393																																																	0													159.0	151.0	154.0					4																	156711018		1942	4149	6091	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.450C>T	4.37:g.156711018C>T			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I150	ENST00000264424.8	37	c.450	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156711018	+1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	0.992	T
GUCY2F	2986	genome.wustl.edu	37	X	108718759	108718759	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:108718759G>C	ENST00000218006.2	-	2	698	c.407C>G	c.(406-408)tCg>tGg	p.S136W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	136					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCCCAGGAGCGAGGCTGCCTC	0.498											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													167.0	178.0	174.0					X																	108718759		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.407C>G	X.37:g.108718759G>C	ENSP00000218006:p.Ser136Trp	1414	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.S136W	ENST00000218006.2	37	c.407	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428114	0.43122	.	.	ENSG00000101890	ENST00000218006	D	0.84800	-1.9	4.94	1.96	0.26148	Extracellular ligand-binding receptor (1);	0.293525	0.34110	N	0.004253	D	0.88280	0.6394	M	0.63843	1.955	0.25561	N	0.987	D	0.76494	0.999	D	0.76071	0.987	T	0.78748	-0.2083	10	0.87932	D	0	.	5.302	0.15783	0.214:0.1613:0.6247:0.0	.	136	P51841	GUC2F_HUMAN	W	136	ENSP00000218006:S136W	ENSP00000218006:S136W	S	-	2	0	GUCY2F	108605415	0.683000	0.27633	0.083000	0.20561	0.880000	0.50808	2.799000	0.47892	0.145000	0.18977	0.594000	0.82650	TCG	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.498	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108718759	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.037	C
LINC01219	104355220	genome.wustl.edu	37	11	2016562	2016562	+	lincRNA	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:2016562C>T	ENST00000418612.1	+	0	1444				H19_ENST00000390168.4_RNA																							GGTGAGGCCTCGGGCACACAG	0.667																																																	0													43.0	45.0	45.0					11																	2016562		875	1990	2865			283120																															11.37:g.2016562C>T				RNA	SNP	-	NULL	ENST00000418612.1	37	NULL		11																																																																																			H19	-	-		0.667	AC051649.6-001	KNOWN	basic	lincRNA	H19	HGNC	lincRNA	OTTHUMT00000034754.1	C			2016562	-1	no_errors	ENST00000411754	ensembl	human	known	70_37	rna	SNP	0.041	T
HABP4	22927	genome.wustl.edu	37	9	99250501	99250501	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:99250501G>A	ENST00000375249.4	+	7	1205	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	HABP4_ENST00000375251.3_Missense_Mutation_p.G272E|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GGCACCCGGGGAGGCCGGGGA	0.547																																																	0													113.0	116.0	115.0					9																	99250501		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1130G>A	9.37:g.99250501G>A	ENSP00000364398:p.Gly377Glu			Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.G377E	ENST00000375249.4	37	c.1130	CCDS6719.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546130	0.86022	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.108809	0.64402	D	0.000008	T	0.58250	0.2109	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.949	T	0.53592	-0.8417	10	0.40728	T	0.16	-21.781	15.6951	0.77490	0.0:0.0:1.0:0.0	.	272;377	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	E	272;377	ENSP00000364400:G272E;ENSP00000364398:G377E	ENSP00000364398:G377E	G	+	2	0	HABP4	98290322	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.075000	0.89502	2.756000	0.94617	0.650000	0.86243	GGA	HABP4	-	NULL		0.547	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	G	NM_014282		99250501	+1	no_errors	ENST00000375249	ensembl	human	known	70_37	missense	SNP	1.000	A
HCRTR2	3062	genome.wustl.edu	37	6	55142241	55142241	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:55142241C>G	ENST00000370862.3	+	5	1162	c.826C>G	c.(826-828)Cga>Gga	p.R276G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	276					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCACAGCCTCGAGGGCCAGG	0.512																																																	0													71.0	73.0	72.0					6																	55142241		2203	4300	6503	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.826C>G	6.37:g.55142241C>G	ENSP00000359899:p.Arg276Gly		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.R276G	ENST00000370862.3	37	c.826	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407868	0.25378	.	.	ENSG00000137252	ENST00000370862	T	0.62639	0.01	6.06	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.436436	0.24323	N	0.039522	T	0.30198	0.0757	N	0.25890	0.77	0.33482	D	0.587557	B	0.15141	0.012	B	0.17098	0.017	T	0.09185	-1.0686	10	0.20046	T	0.44	.	14.1919	0.65644	0.3897:0.6103:0.0:0.0	.	276	O43614	OX2R_HUMAN	G	276	ENSP00000359899:R276G	ENSP00000359899:R276G	R	+	1	2	HCRTR2	55250200	0.305000	0.24481	0.976000	0.42696	0.658000	0.38924	0.359000	0.20233	1.509000	0.48786	0.650000	0.86243	CGA	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	C			55142241	+1	no_errors	ENST00000370862	ensembl	human	known	70_37	missense	SNP	0.799	G
HERC2P3	283755	genome.wustl.edu	37	15	20649647	20649647	+	RNA	SNP	C	C	T	rs540674068	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:20649647C>T	ENST00000428453.1	-	0	2551							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCAATCACTCGGCCTAGGCC	0.567													.|||	2	0.000399361	0.0	0.0	5008	,	,		33287	0.002		0.0	False		,,,				2504	0.0																0													113.0	105.0	108.0					15																	20649647		2191	4272	6463			283755			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649647C>T				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-		0.567	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	C	NG_008269		20649647	-1	no_errors	ENST00000426501	ensembl	human	known	70_37	rna	SNP	1.000	T
HFM1	164045	genome.wustl.edu	37	1	91859929	91859929	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:91859929G>A	ENST00000370425.3	-	4	313	c.215C>T	c.(214-216)tCa>tTa	p.S72L	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	72					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTAAATTTGATGTTAACAT	0.264																																																	0													41.0	42.0	41.0					1																	91859929		2200	4292	6492	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.215C>T	1.37:g.91859929G>A	ENSP00000359454:p.Ser72Leu		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S72L	ENST00000370425.3	37	c.215	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549191	0.45383	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444;ENST00000455133	T;T;T	0.61859	0.07;0.65;1.22	3.84	3.84	0.44239	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.80722	D	1	P;B	0.47034	0.889;0.3	B;B	0.44224	0.444;0.098	T	0.37776	-0.9691	9	0.54805	T	0.06	.	11.4492	0.50142	0.0:0.0:1.0:0.0	.	72;72	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	72;105;30;72	ENSP00000359454:S72L;ENSP00000388900:S30L;ENSP00000409827:S72L	ENSP00000359454:S72L	S	-	2	0	HFM1	91632517	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.911000	0.48774	2.175000	0.68902	0.467000	0.42956	TCA	HFM1	-	NULL		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91859929	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	A
HIPK2	28996	genome.wustl.edu	37	7	139257806	139257806	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:139257806G>A	ENST00000406875.3	-	15	3558	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L	HIPK2_ENST00000428878.2_Missense_Mutation_p.S1128L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1155	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S1155*(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GATGGTGGGCGAGGGCAGGAC	0.662																																																	2	Substitution - Nonsense(2)	lung(2)											35.0	43.0	41.0					7																	139257806		2157	4253	6410	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3464C>T	7.37:g.139257806G>A	ENSP00000385571:p.Ser1155Leu		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1155L	ENST00000406875.3	37	c.3464		7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367795	0.82463	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.68479	-0.27;-0.33	5.2	4.32	0.51571	.	.	.	.	.	T	0.53254	0.1785	.	.	.	0.52501	D	0.99995	P;P	0.39181	0.663;0.538	B;B	0.25506	0.028;0.061	T	0.57388	-0.7820	8	0.54805	T	0.06	.	13.2753	0.60184	0.0763:0.0:0.9237:0.0	.	1155;1128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	1155;1128	ENSP00000385571:S1155L;ENSP00000413724:S1128L	ENSP00000385571:S1155L	S	-	2	0	HIPK2	138908346	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	9.281000	0.95811	1.192000	0.43071	0.655000	0.94253	TCG	HIPK2	-	NULL		0.662	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	G	NM_022740		139257806	-1	no_errors	ENST00000406875	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H1E	3008	genome.wustl.edu	37	6	26156664	26156664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26156664G>T	ENST00000304218.3	+	1	106	c.46G>T	c.(46-48)Gag>Tag	p.E16*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	16					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCCCTGCCGAGAAGACTCC	0.647																																																	0													43.0	53.0	50.0					6																	26156664		2143	4232	6375	SO:0001587	stop_gained	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.46G>T	6.37:g.26156664G>T	ENSP00000307705:p.Glu16*		Q4VB25	Nonsense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E16*	ENST00000304218.3	37	c.46	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494867	0.44352	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.63	4.76	0.60689	.	0.240129	0.30575	N	0.009339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-26.1734	8.088	0.30784	0.2368:0.0:0.7632:0.0	.	.	.	.	X	16	.	ENSP00000307705:E16X	E	+	1	0	HIST1H1E	26264643	0.995000	0.38212	0.936000	0.37596	0.013000	0.08279	2.507000	0.45442	1.522000	0.49001	-0.140000	0.14226	GAG	HIST1H1E	-	NULL		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156664	+1	no_errors	ENST00000304218	ensembl	human	known	70_37	nonsense	SNP	0.736	T
HIST1H2BH	8345	genome.wustl.edu	37	6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26251947G>C	ENST00000356350.2	+	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	NS(1)|breast(1)											125.0	113.0	117.0					6																	26251947		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.69G>C	6.37:g.26251947G>C	ENSP00000348706:p.Gln23His		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.Q23H	ENST00000356350.2	37	c.69	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	9.476	1.096980	0.20552	.	.	ENSG00000197459	ENST00000356350	T	0.23950	1.88	4.68	1.76	0.24704	Histone-fold (2);	.	.	.	.	T	0.14874	0.0359	M	0.82517	2.595	0.23611	N	0.997291	B	0.21309	0.054	B	0.09377	0.004	T	0.29971	-0.9994	9	0.72032	D	0.01	.	9.2096	0.37311	0.2573:0.0:0.7427:0.0	.	23	Q93079	H2B1H_HUMAN	H	23	ENSP00000348706:Q23H	ENSP00000348706:Q23H	Q	+	3	2	HIST1H2BH	26359926	1.000000	0.71417	0.974000	0.42286	0.004000	0.04260	2.852000	0.48310	0.220000	0.20860	-0.466000	0.05196	CAG	HIST1H2BH	-	superfamily_Histone-fold		0.552	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26251947	+1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	0.998	C
HIST1H2BH	8345	genome.wustl.edu	37	6	26252209	26252209	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:26252209G>A	ENST00000356350.2	+	1	331	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	111					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GGCCAAGCACGCCGTGTCCGA	0.562																																																	0													67.0	71.0	69.0					6																	26252209		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.331G>A	6.37:g.26252209G>A	ENSP00000348706:p.Ala111Thr		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A111T	ENST00000356350.2	37	c.331	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	17.89	3.499513	0.64298	.	.	ENSG00000197459	ENST00000356350	T	0.36340	1.26	4.49	4.49	0.54785	Histone-fold (2);	0.000000	0.39020	U	0.001489	T	0.30823	0.0777	M	0.86420	2.815	0.43050	D	0.994658	P	0.39737	0.685	B	0.29267	0.1	T	0.51694	-0.8673	10	0.59425	D	0.04	.	17.0304	0.86459	0.0:0.0:1.0:0.0	.	111	Q93079	H2B1H_HUMAN	T	111	ENSP00000348706:A111T	ENSP00000348706:A111T	A	+	1	0	HIST1H2BH	26360188	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	9.481000	0.97933	2.427000	0.82271	0.467000	0.42956	GCC	HIST1H2BH	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.562	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26252209	+1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-DQA1	3117	genome.wustl.edu	37	6	32609786	32609786	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:32609786G>A	ENST00000343139.5	+	3	471	c.369G>A	c.(367-369)gtG>gtA	p.V123V	HLA-DQA1_ENST00000395363.1_Silent_p.V123V|HLA-DQA1_ENST00000374949.2_Silent_p.V123V	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGTCTCCCGTGACACTGGGTC	0.507																																																	0													152.0	115.0	128.0					6																	32609786		1510	2709	4219	SO:0001819	synonymous_variant	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.369G>A	6.37:g.32609786G>A			O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.V123	ENST00000343139.5	37	c.369	CCDS4752.1	6																																																																																			HLA-DQA1	-	pfam_Ig_C1-set,pfscan_Ig-like		0.507	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609786	+1	no_errors	ENST00000343139	ensembl	human	known	70_37	silent	SNP	0.587	A
HMSD	284293	genome.wustl.edu	37	18	61627399	61627399	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:61627399C>T	ENST00000408945.3	+	4	432	c.230C>T	c.(229-231)aCa>aTa	p.T77I	HMSD_ENST00000526932.1_Nonsense_Mutation_p.Q43*|HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	77						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TAGGGTTTTACAGATTCCTGT	0.373																																																	0													65.0	58.0	60.0					18																	61627399		1568	3581	5149	SO:0001583	missense	284293			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.230C>T	18.37:g.61627399C>T	ENSP00000386207:p.Thr77Ile			Nonsense_Mutation	SNP	NULL	p.Q43*	ENST00000408945.3	37	c.127	CCDS42441.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.705|9.705	1.155399|1.155399	0.21454|0.21454	.|.	.|.	ENSG00000221887|ENSG00000221887	ENST00000526932|ENST00000408945	.|D	.|0.82167	.|-1.58	1.7|1.7	0.418|0.418	0.16429|0.16429	.|Serpin domain (2);	.|.	.|.	.|.	.|.	.|T	.|0.60625	.|0.2283	N|N	0.04805|0.04805	-0.155|-0.155	0.34887|0.34887	D|D	0.74517|0.74517	.|B	.|0.19445	.|0.036	.|B	.|0.25987	.|0.065	.|T	.|0.49624	.|-0.8920	.|9	0.87932|0.17832	D|T	0|0.49	.|.	4.519|4.519	0.11950|0.11950	0.6189:0.3811:0.0:0.0|0.6189:0.3811:0.0:0.0	.|.	.|77	.|A8MTL9	.|HMSD_HUMAN	X|I	43|77	.|ENSP00000386207:T77I	ENSP00000431632:Q43X|ENSP00000386207:T77I	Q|T	+|+	1|2	0|0	HMSD|HMSD	59778379|59778379	0.274000|0.274000	0.24191|0.24191	0.734000|0.734000	0.30879|0.30879	0.044000|0.044000	0.14063|0.14063	-0.531000|-0.531000	0.06171|0.06171	-0.055000|-0.055000	0.13244|0.13244	0.313000|0.313000	0.20887|0.20887	CAG|ACA	HMSD	-	NULL		0.373	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMSD	HGNC	protein_coding	OTTHUMT00000134010.2	C	XM_209104		61627399	+1	no_errors	ENST00000526932	ensembl	human	known	70_37	nonsense	SNP	0.972	T
HOXD4	3233	genome.wustl.edu	37	2	177016536	177016536	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:177016536G>C	ENST00000306324.3	+	1	587	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	59					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGACTTCGGTGAGCAGCCTTT	0.761																																																	0													8.0	10.0	10.0					2																	177016536		2145	4219	6364	SO:0001583	missense	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.175G>C	2.37:g.177016536G>C	ENSP00000302548:p.Glu59Gln		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.E59Q	ENST00000306324.3	37	c.175	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796016	0.50208	.	.	ENSG00000170166	ENST00000306324	T	0.80994	-1.44	4.31	4.31	0.51392	.	0.056467	0.64402	D	0.000002	D	0.87172	0.6111	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	P	0.54590	0.756	D	0.88669	0.3194	10	0.48119	T	0.1	.	17.1325	0.86729	0.0:0.0:1.0:0.0	.	59	P09016	HXD4_HUMAN	Q	59	ENSP00000302548:E59Q	ENSP00000302548:E59Q	E	+	1	0	HOXD4	176724782	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.366000	0.97143	2.078000	0.62432	0.561000	0.74099	GAG	HOXD4	-	NULL		0.761	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	G			177016536	+1	no_errors	ENST00000306324	ensembl	human	known	70_37	missense	SNP	1.000	C
HSF5	124535	genome.wustl.edu	37	17	56565423	56565423	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:56565423G>A	ENST00000323777.3	-	1	322	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	71					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTTTTGAAGAGCTCGGGCT	0.716																																																	0													13.0	14.0	14.0					17																	56565423		2184	4273	6457	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.213C>T	17.37:g.56565423G>A			Q08EH7|Q8N7V2	Silent	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.L71	ENST00000323777.3	37	c.213	CCDS32690.1	17																																																																																			HSF5	-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd		0.716	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	G	XM_064190		56565423	-1	no_errors	ENST00000323777	ensembl	human	known	70_37	silent	SNP	0.986	A
HTR7	3363	genome.wustl.edu	37	10	92508659	92508659	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:92508659G>C	ENST00000336152.3	-	2	1258	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	HTR7_ENST00000371719.2_Nonsense_Mutation_p.S411*|HTR7_ENST00000371721.3_Nonsense_Mutation_p.S411*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.S411*	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	411					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTGCAGCTGAGAGCTTCCG	0.498																																																	0													117.0	124.0	121.0					10																	92508659		2203	4300	6503	SO:0001587	stop_gained	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1232C>G	10.37:g.92508659G>C	ENSP00000337949:p.Ser411*		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.S411*	ENST00000336152.3	37	c.1232	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.179761	0.94846	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7045	0.96068	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000277874:S411X	S	-	2	0	HTR7	92498639	1.000000	0.71417	0.937000	0.37676	0.687000	0.40016	9.476000	0.97823	2.664000	0.90586	0.650000	0.86243	TCA	HTR7	-	prints_5HT_7_rcpt		0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	G	NM_000872		92508659	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	nonsense	SNP	1.000	C
IARS2	55699	genome.wustl.edu	37	1	220275594	220275594	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:220275594G>C	ENST00000302637.5	+	4	778	c.674G>C	c.(673-675)aGa>aCa	p.R225T	IARS2_ENST00000366922.1_Missense_Mutation_p.R153T	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAACAGTTGAGAACTTTTTAC	0.308																																																	0													89.0	88.0	88.0					1																	220275594		2203	4298	6501	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.674G>C	1.37:g.220275594G>C	ENSP00000303279:p.Arg225Thr		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.R225T	ENST00000302637.5	37	c.674	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749686	0.49257	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.43294	0.95;0.95	5.96	3.88	0.44766	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.263848	0.49305	D	0.000160	T	0.45276	0.1334	M	0.76574	2.34	0.37888	D	0.930603	P	0.39424	0.673	B	0.42738	0.396	T	0.54417	-0.8297	10	0.59425	D	0.04	-10.995	7.5947	0.28041	0.3292:0.0:0.6708:0.0	.	225	Q9NSE4	SYIM_HUMAN	T	153;225	ENSP00000355889:R153T;ENSP00000303279:R225T	ENSP00000303279:R225T	R	+	2	0	IARS2	218342217	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	4.986000	0.63851	1.512000	0.48834	0.650000	0.86243	AGA	IARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase		0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		G	NM_018060		220275594	+1	no_errors	ENST00000302637	ensembl	human	known	70_37	missense	SNP	0.979	C
IGHMBP2	3508	genome.wustl.edu	37	11	68701260	68701260	+	Intron	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:68701260C>T	ENST00000255078.3	+	10	1529				IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2						ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCTGTGTGCCAGGGACCTCC	0.652																																																	0													35.0	36.0	35.0					11																	68701260		2200	4294	6494	SO:0001627	intron_variant	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1419-3C>T	11.37:g.68701260C>T			A0PJD2|Q00443|Q14177	RNA	SNP	-	NULL	ENST00000255078.3	37	NULL	CCDS8187.1	11																																																																																			IGHMBP2	-	-		0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	C	NM_002180		68701260	+1	no_errors	ENST00000541229	ensembl	human	known	70_37	rna	SNP	0.998	T
IL12A	3592	genome.wustl.edu	37	3	159711269	159711269	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:159711269C>G	ENST00000305579.2	+	4	717	c.410C>G	c.(409-411)tCt>tGt	p.S137C	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.S99C|IL12A_ENST00000466512.1_Intron	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	103					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAGAGACCTCTTTCATAACT	0.333																																																	0													65.0	66.0	66.0					3																	159711269		2203	4300	6503	SO:0001583	missense	3592			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.410C>G	3.37:g.159711269C>G	ENSP00000303231:p.Ser137Cys		Q96QZ1	Missense_Mutation	SNP	pfam_IL12,superfamily_4_helix_cytokine-like_core	p.S137C	ENST00000305579.2	37	c.410	CCDS3187.1	3	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117999	0.20877	.	.	ENSG00000168811	ENST00000305579;ENST00000480787	.	.	.	3.8	3.8	0.43715	.	0.228686	0.31415	N	0.007698	T	0.69477	0.3115	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	P	0.57244	0.816	T	0.74318	-0.3704	9	0.87932	D	0	-8.4295	11.4815	0.50328	0.0:1.0:0.0:0.0	.	137	O60595	.	C	137;99	.	ENSP00000303231:S137C	S	+	2	0	IL12A	161193963	0.290000	0.24343	0.227000	0.23927	0.017000	0.09413	1.859000	0.39418	2.430000	0.82344	0.650000	0.86243	TCT	IL12A	-	pfam_IL12,superfamily_4_helix_cytokine-like_core		0.333	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12A	HGNC	protein_coding	OTTHUMT00000352602.2	C	NM_000882		159711269	+1	no_errors	ENST00000305579	ensembl	human	known	70_37	missense	SNP	0.430	G
INHA	3623	genome.wustl.edu	37	2	220437117	220437117	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:220437117C>T	ENST00000243786.2	+	1	201	c.21C>T	c.(19-21)ctC>ctT	p.L7L	OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	7					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACCTACTGCTCTTCTTGCTGC	0.647											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													66.0	66.0	66.0					2																	220437117		2203	4300	6503	SO:0001819	synonymous_variant	3623				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.21C>T	2.37:g.220437117C>T		2266	A8K8H5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.L7	ENST00000243786.2	37	c.21	CCDS2444.1	2																																																																																			INHA	-	pirsf_Inhibin_asu_subgr		0.647	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	C			220437117	+1	no_errors	ENST00000243786	ensembl	human	known	70_37	silent	SNP	0.066	T
INPPL1	3636	genome.wustl.edu	37	11	71944780	71944780	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:71944780C>T	ENST00000298229.2	+	19	2408	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	INPPL1_ENST00000541756.1_Missense_Mutation_p.S493F|INPPL1_ENST00000538751.1_Missense_Mutation_p.S493F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	735					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTTCATCTCCAAGAAAGGT	0.517																																																	0													172.0	151.0	158.0					11																	71944780		2200	4293	6493	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2204C>T	11.37:g.71944780C>T	ENSP00000298229:p.Ser735Phe		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.S735F	ENST00000298229.2	37	c.2204	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	30	5.056605	0.93793	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.97209	-3.2;-4.29;-4.29	5.08	5.08	0.68730	Inositol polyphosphate-related phosphatase (1);	0.059543	0.64402	D	0.000002	D	0.97207	0.9087	M	0.61703	1.905	0.80722	D	1	D	0.60160	0.987	P	0.53809	0.735	D	0.97125	0.9814	10	0.48119	T	0.1	.	17.409	0.87480	0.0:1.0:0.0:0.0	.	735	O15357	SHIP2_HUMAN	F	735;493;493	ENSP00000298229:S735F;ENSP00000446360:S493F;ENSP00000444619:S493F	ENSP00000298229:S735F	S	+	2	0	INPPL1	71622428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.425000	0.80255	2.510000	0.84645	0.563000	0.77884	TCC	INPPL1	-	smart_IPPc		0.517	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	C	NM_001567		71944780	+1	no_errors	ENST00000298229	ensembl	human	known	70_37	missense	SNP	1.000	T
INTS8	55656	genome.wustl.edu	37	8	95885647	95885647	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:95885647G>A	ENST00000523731.1	+	22	2712	c.2579G>A	c.(2578-2580)gGa>gAa	p.G860E	INTS8_ENST00000447247.1_Missense_Mutation_p.G860E	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	860					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTCCAGGCAGGAGCTGTGTGT	0.443																																																	0													290.0	281.0	284.0					8																	95885647		2203	4300	6503	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2579G>A	8.37:g.95885647G>A	ENSP00000430338:p.Gly860Glu		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.G860E	ENST00000523731.1	37	c.2579	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556148|4.556148	0.86231|0.86231	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|T;T	.|0.34275	.|1.37;1.37	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59362|0.59362	0.2188|0.2188	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.61520|0.61520	-0.7046|-0.7046	5|10	.|0.49607	.|T	.|0.09	-11.0672|-11.0672	17.9015|17.9015	0.88905|0.88905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|860	.|Q75QN2	.|INT8_HUMAN	K|E	682|860	.|ENSP00000430338:G860E;ENSP00000398203:G860E	.|ENSP00000398203:G860E	E|G	+|+	1|2	0|0	INTS8|INTS8	95954823|95954823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.210000|2.210000	0.71456|0.71456	0.655000|0.655000	0.94253|0.94253	GAG|GGA	INTS8	-	NULL		0.443	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	G	NM_017864		95885647	+1	no_errors	ENST00000523731	ensembl	human	known	70_37	missense	SNP	1.000	A
ITPR3	3710	genome.wustl.edu	37	6	33656045	33656045	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:33656045G>C	ENST00000374316.5	+	49	7465	c.6405G>C	c.(6403-6405)caG>caC	p.Q2135H	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q2135H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2135					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCATGGAGCAGATCGTGTTCC	0.647																																																	0													114.0	99.0	104.0					6																	33656045		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6405G>C	6.37:g.33656045G>C	ENSP00000363435:p.Gln2135His		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q2135H	ENST00000374316.5	37	c.6405	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.250875	0.95305	.	.	ENSG00000096433	ENST00000374316	D	0.92495	-3.05	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.986	D	0.95804	0.8835	10	0.87932	D	0	-32.7961	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2135;1805	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2135	ENSP00000363435:Q2135H	ENSP00000363435:Q2135H	Q	+	3	2	ITPR3	33764023	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.003000	0.88520	2.594000	0.87642	0.650000	0.86243	CAG	ITPR3	-	NULL		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33656045	+1	no_errors	ENST00000374316	ensembl	human	known	70_37	missense	SNP	1.000	C
KANK3	256949	genome.wustl.edu	37	19	8397920	8397920	+	Silent	SNP	G	G	A	rs371284725		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:8397920G>A	ENST00000593649.1	-	7	1979	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	KANK3_ENST00000330915.3_Silent_p.I638I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	638										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCAGGCTTGCGATGGCCAGGT	0.657																																																	0								G		0,4406		0,0,2203	33.0	27.0	29.0		1914	-0.4	0.3	19		29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KANK3	NM_198471.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		638/822	8397920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1914C>T	19.37:g.8397920G>A			Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I638	ENST00000593649.1	37	c.1914		19																																																																																			KANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.657	KANK3-002	KNOWN	basic	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461379.1	G	NM_198471		8397920	-1	no_errors	ENST00000593649	ensembl	human	known	70_37	silent	SNP	0.956	A
KAT5	10524	genome.wustl.edu	37	11	65481258	65481258	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:65481258G>A	ENST00000377046.3	+	7	802	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KAT5_ENST00000341318.4_Missense_Mutation_p.R210H|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	177					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGAGCCGCCCGTAGGGCAGTG	0.532																																																	0													28.0	26.0	26.0					11																	65481258		2200	4296	6496	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.530G>A	11.37:g.65481258G>A	ENSP00000366245:p.Arg177His		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.R210H	ENST00000377046.3	37	c.629	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815345	0.50527	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.49139	0.87;0.92;0.86;0.92;0.86;0.79	5.28	5.28	0.74379	.	0.204055	0.42821	D	0.000642	T	0.51719	0.1691	L	0.52573	1.65	0.80722	D	1	P;B;D;B	0.61697	0.902;0.117;0.99;0.071	B;B;P;B	0.48982	0.264;0.017;0.597;0.008	T	0.52563	-0.8559	10	0.46703	T	0.11	-8.359	16.395	0.83601	0.0:0.0:1.0:0.0	.	158;210;125;177	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	H	177;125;210;158;119;171	ENSP00000366245:R177H;ENSP00000344955:R125H;ENSP00000340330:R210H;ENSP00000434765:R158H;ENSP00000436000:R119H;ENSP00000436012:R171H	ENSP00000340330:R210H	R	+	2	0	KAT5	65237834	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	6.816000	0.75247	2.472000	0.83506	0.561000	0.74099	CGT	KAT5	-	NULL		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65481258	+1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA5	3741	genome.wustl.edu	37	12	5154962	5154962	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:5154962G>C	ENST00000252321.3	+	1	1878	c.1649G>C	c.(1648-1650)aGa>aCa	p.R550T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	550					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGGCTGGACAGAGGAGTCCAG	0.632																																																	0													34.0	39.0	37.0					12																	5154962		2203	4300	6503	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1649G>C	12.37:g.5154962G>C	ENSP00000252321:p.Arg550Thr		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R550T	ENST00000252321.3	37	c.1649	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	4.893	0.165912	0.09339	.	.	ENSG00000130037	ENST00000252321	D	0.97505	-4.41	5.1	3.29	0.37713	.	30.287500	0.00397	U	0.000048	D	0.87317	0.6147	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83863	0.0269	10	0.12766	T	0.61	.	5.2201	0.15364	0.0871:0.1845:0.6058:0.1227	.	550	P22460	KCNA5_HUMAN	T	550	ENSP00000252321:R550T	ENSP00000252321:R550T	R	+	2	0	KCNA5	5025223	0.016000	0.18221	0.000000	0.03702	0.970000	0.65996	1.605000	0.36815	0.731000	0.32448	0.561000	0.74099	AGA	KCNA5	-	NULL		0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	G	NM_002234		5154962	+1	no_errors	ENST00000252321	ensembl	human	known	70_37	missense	SNP	0.000	C
KCNJ2	3759	genome.wustl.edu	37	17	68172058	68172058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:68172058delA	ENST00000243457.3	+	2	1261	c.878delA	c.(877-879)gaafs	p.E293fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.E293fs	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	293					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCAGACTTTGAAATCGTGGTC	0.448																																																	0													75.0	77.0	76.0					17																	68172058		2203	4300	6503	SO:0001589	frameshift_variant	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.878delA	17.37:g.68172058delA	ENSP00000243457:p.Glu293fs		O15110|P48049	Frame_Shift_Del	DEL	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.I294fs	ENST00000243457.3	37	c.878	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.448	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	A	NM_000891		68172058	+1	no_errors	ENST00000243457	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
KCNV2	169522	genome.wustl.edu	37	9	2718192	2718192	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652																																																	0													25.0	22.0	23.0					9																	2718192		2201	4298	6499	SO:0001819	synonymous_variant	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.453C>T	9.37:g.2718192C>T			Q5T6X0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.F151	ENST00000382082.3	37	c.453	CCDS6447.1	9																																																																																			KCNV2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3		0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	HGNC	protein_coding	OTTHUMT00000051528.1	C	NM_133497		2718192	+1	no_errors	ENST00000382082	ensembl	human	known	70_37	silent	SNP	1.000	T
KDM4C	23081	genome.wustl.edu	37	9	7174698	7174698	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:7174698C>G	ENST00000381309.3	+	22	3705	c.3140C>G	c.(3139-3141)tCt>tGt	p.S1047C	KDM4C_ENST00000428870.2_Missense_Mutation_p.S734C|KDM4C_ENST00000442236.2_Missense_Mutation_p.S792C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1047					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTGAAGAGCTCTTTCCAGAAG	0.483																																																	0													148.0	153.0	151.0					9																	7174698		2203	4300	6503	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3140C>G	9.37:g.7174698C>G	ENSP00000370710:p.Ser1047Cys		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S1047C	ENST00000381309.3	37	c.3140	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232387	0.79688	.	.	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.34275	1.37;1.37;1.37	5.69	5.69	0.88448	.	0.083866	0.50627	D	0.000109	T	0.53400	0.1794	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.894	T	0.50617	-0.8807	10	0.52906	T	0.07	.	19.8167	0.96571	0.0:1.0:0.0:0.0	.	792;1047	E7EV17;Q9H3R0	.;KDM4C_HUMAN	C	1047;792;734	ENSP00000370710:S1047C;ENSP00000409353:S792C;ENSP00000405739:S734C	ENSP00000370710:S1047C	S	+	2	0	KDM4C	7164698	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.564000	0.60830	2.671000	0.90904	0.591000	0.81541	TCT	KDM4C	-	superfamily_Chorismate_mutase_type_II		0.483	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		7174698	+1	no_errors	ENST00000381309	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM5A	5927	genome.wustl.edu	37	12	416238	416238	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:416238G>A	ENST00000399788.2	-	24	4310	c.3948C>T	c.(3946-3948)ttC>ttT	p.F1316F	KDM5A_ENST00000382815.4_Silent_p.F1316F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1316					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGACTGCTGGAAACTAGGTA	0.403			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													154.0	141.0	145.0					12																	416238		1968	4158	6126	SO:0001819	synonymous_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3948C>T	12.37:g.416238G>A			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.F1316	ENST00000399788.2	37	c.3948	CCDS41736.1	12																																																																																			KDM5A	-	NULL		0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		416238	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA0430	9665	genome.wustl.edu	37	16	15704917	15704917	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:15704917C>G	ENST00000396368.3	-	19	3872	c.3666G>C	c.(3664-3666)ttG>ttC	p.L1222F	KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1219F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L824F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1222F|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1057F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1219F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1222	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CGATGTCAATCAACTCACAAA	0.403																																																	0													180.0	164.0	169.0					16																	15704917		1934	4148	6082	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3666G>C	16.37:g.15704917C>G	ENSP00000379654:p.Leu1222Phe		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.L1222F	ENST00000396368.3	37	c.3666	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810401	0.70797	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.17	3.21	0.36854	.	0.077238	0.53938	D	0.000044	T	0.66356	0.2781	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.995;0.995;0.996	T	0.64736	-0.6337	9	0.54805	T	0.06	.	11.1551	0.48482	0.0:0.803:0.0:0.197	.	1221;1219;1218;1221	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	F	1222;1057;1162;824;1219;1222;1002	.	ENSP00000315718:L1162F	L	-	3	2	KIAA0430	15612418	0.998000	0.40836	0.903000	0.35520	0.984000	0.73092	1.602000	0.36783	0.499000	0.27970	-0.150000	0.13652	TTG	KIAA0430	-	NULL		0.403	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	C	NM_014647		15704917	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.995	G
KIAA1524	57650	genome.wustl.edu	37	3	108279559	108279559	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:108279559C>T	ENST00000295746.8	-	14	1840	c.1764G>A	c.(1762-1764)ttG>ttA	p.L588L	KIAA1524_ENST00000487834.1_5'Flank|KIAA1524_ENST00000491772.1_Silent_p.L429L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	588					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACCATCTTTCAAATGAGGAG	0.348																																																	0													171.0	172.0	172.0					3																	108279559		2203	4300	6503	SO:0001819	synonymous_variant	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1764G>A	3.37:g.108279559C>T			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	superfamily_ARM-type_fold	p.L588	ENST00000295746.8	37	c.1764	CCDS33812.1	3																																																																																			KIAA1524	-	NULL		0.348	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108279559	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	silent	SNP	0.019	T
KIAA1549	57670	genome.wustl.edu	37	7	138524885	138524885	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:138524885C>G	ENST00000422774.1	-	19	5639	c.5591G>C	c.(5590-5592)aGa>aCa	p.R1864T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1814T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1864T			Q9HCM3	K1549_HUMAN	KIAA1549	1864						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACGGCCTCTCTTCGCCCCGC	0.577			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													27.0	28.0	28.0					7																	138524885		1904	4017	5921	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5591G>C	7.37:g.138524885C>G	ENSP00000416040:p.Arg1864Thr		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1864T	ENST00000422774.1	37	c.5591	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205237	0.58234	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28255	1.62;1.63;1.76	4.9	4.9	0.64082	.	0.482226	0.22512	N	0.059086	T	0.52141	0.1716	M	0.61703	1.905	0.43852	D	0.996445	D;D;D;D	0.89917	0.999;0.996;1.0;0.996	D;D;D;D	0.85130	0.994;0.99;0.997;0.99	T	0.44097	-0.9350	10	0.34782	T	0.22	.	15.6053	0.76664	0.0:1.0:0.0:0.0	.	1864;648;1864;648	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	T	1864;1814;1864	ENSP00000406661:R1864T;ENSP00000242365:R1814T;ENSP00000416040:R1864T	ENSP00000242365:R1814T	R	-	2	0	KIAA1549	138175425	1.000000	0.71417	0.952000	0.39060	0.478000	0.33099	4.969000	0.63735	2.438000	0.82558	0.585000	0.79938	AGA	KIAA1549	-	NULL		0.577	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138524885	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	0.994	G
KIAA1731	85459	genome.wustl.edu	37	11	93432930	93432930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:93432930G>T	ENST00000325212.6	+	15	5014	c.4852G>T	c.(4852-4854)Gag>Tag	p.E1618*	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531700.1_Intron|KIAA1731_ENST00000411936.1_Nonsense_Mutation_p.E1618*			Q9C0D2	K1731_HUMAN	KIAA1731	1618						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTATTCTTATGAGAAACCCCA	0.378																																																	0													46.0	39.0	41.0					11																	93432930		692	1591	2283	SO:0001587	stop_gained	85459			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.4852G>T	11.37:g.93432930G>T	ENSP00000316681:p.Glu1618*		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Nonsense_Mutation	SNP	NULL	p.E1618*	ENST00000325212.6	37	c.4852	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.441630	0.98813	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	.	.	.	3.89	2.91	0.33838	.	0.670411	0.13506	N	0.382825	.	.	.	.	.	.	0.23700	N	0.997078	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.9638	9.4453	0.38693	0.0:0.2158:0.7842:0.0	.	.	.	.	X	1618	.	ENSP00000316681:E1618X	E	+	1	0	KIAA1731	93072578	0.413000	0.25400	0.018000	0.16275	0.007000	0.05969	0.890000	0.28295	1.992000	0.58205	0.563000	0.77884	GAG	KIAA1731	-	NULL		0.378	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93432930	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	nonsense	SNP	0.011	T
KIF26B	55083	genome.wustl.edu	37	1	245766083	245766083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:245766083C>T	ENST00000407071.2	+	6	1995	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	KIF26B_ENST00000366518.4_Nonsense_Mutation_p.Q138*	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	519	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGACGCTTCTCAGGTGGGTAT	0.522																																																	0													108.0	107.0	107.0					1																	245766083		1899	4130	6029	SO:0001587	stop_gained	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1555C>T	1.37:g.245766083C>T	ENSP00000385545:p.Gln519*		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q519*	ENST00000407071.2	37	c.1555	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.606308	0.98881	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	.	.	.	X	519;138;135	.	ENSP00000355475:Q138X	Q	+	1	0	KIF26B	243832706	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.776000	0.85560	2.745000	0.94114	0.655000	0.94253	CAG	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.522	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	C	XM_371354		245766083	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KLHL42	57542	genome.wustl.edu	37	12	27950964	27950964	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:27950964G>A	ENST00000381271.2	+	3	1694	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	461					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCACCCTGTCGACCAGCTTGG	0.483																																																	0													137.0	101.0	113.0					12																	27950964		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1383G>A	12.37:g.27950964G>A			Q2VPK1|Q8N334	Silent	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.S461	ENST00000381271.2	37	c.1383	CCDS31763.1	12																																																																																			KLHDC5	-	NULL		0.483	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	G	NM_020782		27950964	+1	no_errors	ENST00000381271	ensembl	human	known	70_37	silent	SNP	0.973	A
KRT18	3875	genome.wustl.edu	37	12	53344643	53344643	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53344643G>C	ENST00000388835.3	+	3	820	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E204Q|KRT18_ENST00000550600.1_Missense_Mutation_p.E204Q	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	204	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GACAGAGATCGAGGCTCTCAA	0.572																																																	0													21.0	17.0	18.0					12																	53344643		2203	4300	6503	SO:0001583	missense	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.610G>C	12.37:g.53344643G>C	ENSP00000373487:p.Glu204Gln		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E204Q	ENST00000388835.3	37	c.610	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	27.9	4.872026	0.91587	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89875	-2.58;-2.58;-2.58	3.85	3.85	0.44370	Filament (1);	0.000000	0.64402	D	0.000013	D	0.92635	0.7660	M	0.77313	2.365	0.58432	D	0.999998	D;P	0.56035	0.974;0.884	P;P	0.57960	0.65;0.83	D	0.93534	0.6872	10	0.87932	D	0	.	14.0698	0.64852	0.0:0.0:1.0:0.0	.	204;204	F8VZY9;P05783	.;K1C18_HUMAN	Q	204	ENSP00000373489:E204Q;ENSP00000447278:E204Q;ENSP00000373487:E204Q	ENSP00000373487:E204Q	E	+	1	0	KRT18	51630910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.580000	0.98207	2.427000	0.82271	0.561000	0.74099	GAG	KRT18	-	pfam_F		0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	G	NM_199187		53344643	+1	no_errors	ENST00000388835	ensembl	human	known	70_37	missense	SNP	1.000	C
KRT18	3875	genome.wustl.edu	37	12	53344685	53344685	+	Missense_Mutation	SNP	G	G	A	rs375823747		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53344685G>A	ENST00000388835.3	+	3	862	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E218K|KRT18_ENST00000550600.1_Missense_Mutation_p.E218K	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	218	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAAGAACCACGAAGAGGCAAG	0.547																																																	0								G	LYS/GLU,LYS/GLU	0,4372		0,0,2186	8.0	7.0	8.0		652,652	3.8	1.0	12		8	1,8465		0,1,4232	no	missense,missense	KRT18	NM_000224.2,NM_199187.1	56,56	0,1,6418	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	218/431,218/431	53344685	1,12837	2186	4233	6419	SO:0001583	missense	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.652G>A	12.37:g.53344685G>A	ENSP00000373487:p.Glu218Lys		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E218K	ENST00000388835.3	37	c.652	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036933	0.54896	0.0	1.18E-4	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90620	-2.7;-2.7;-2.7	3.85	3.85	0.44370	Filament (1);	0.098121	0.43260	D	0.000594	D	0.85274	0.5659	L	0.45051	1.395	0.44862	D	0.997878	P;P	0.35411	0.489;0.5	B;B	0.33620	0.167;0.127	D	0.85997	0.1492	10	0.87932	D	0	.	9.7263	0.40333	0.0:0.2114:0.7886:0.0	.	218;218	F8VZY9;P05783	.;K1C18_HUMAN	K	218	ENSP00000373489:E218K;ENSP00000447278:E218K;ENSP00000373487:E218K	ENSP00000373487:E218K	E	+	1	0	KRT18	51630952	1.000000	0.71417	0.955000	0.39395	0.809000	0.45718	5.260000	0.65490	2.427000	0.82271	0.561000	0.74099	GAA	KRT18	-	pfam_F		0.547	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	G	NM_199187		53344685	+1	no_errors	ENST00000388835	ensembl	human	known	70_37	missense	SNP	0.996	A
KRT34	3885	genome.wustl.edu	37	17	39538343	39538343	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:39538343G>A	ENST00000394001.1	-	1	312	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	94	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CGCTGCCATTGAAGGAGCCCT	0.637																																																	0													108.0	100.0	103.0					17																	39538343		2203	4300	6503	SO:0001819	synonymous_variant	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.282C>T	17.37:g.39538343G>A			Q8IUT8|Q8N4W2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F94	ENST00000394001.1	37	c.282	CCDS11390.1	17																																																																																			KRT34	-	NULL		0.637	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	G	NM_021013		39538343	-1	no_errors	ENST00000394001	ensembl	human	known	70_37	silent	SNP	1.000	A
KRTAP10-9	386676	genome.wustl.edu	37	21	46047689	46047689	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr21:46047689G>A	ENST00000397911.3	+	1	650	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	201	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGTGTGCCTGTCTGCTCTGG	0.622																																																	0													243.0	264.0	257.0					21																	46047689		2203	4300	6503	SO:0001583	missense	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.601G>A	21.37:g.46047689G>A	ENSP00000381009:p.Val201Ile		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	NULL	p.V201I	ENST00000397911.3	37	c.601	CCDS42961.1	21	.	.	.	.	.	.	.	.	.	.	a	0.038	-1.297093	0.01364	.	.	ENSG00000221837	ENST00000397911	T	0.01455	4.87	2.43	-4.86	0.03132	.	.	.	.	.	T	0.01695	0.0054	L	0.55990	1.75	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44574	-0.9319	8	.	.	.	.	1.3952	0.02259	0.3773:0.2419:0.2588:0.122	.	201	P60411	KR109_HUMAN	I	201	ENSP00000381009:V201I	.	V	+	1	0	KRTAP10-9	44872117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.067000	0.00620	-2.483000	0.00521	-1.254000	0.01491	GTC	KRTAP10-9	-	NULL		0.622	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	HGNC	protein_coding	OTTHUMT00000128040.1	G			46047689	+1	no_errors	ENST00000397911	ensembl	human	known	70_37	missense	SNP	0.000	A
L1TD1	54596	genome.wustl.edu	37	1	62672545	62672545	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:62672545G>C	ENST00000498273.1	+	3	540	c.245G>C	c.(244-246)gGg>gCg	p.G82A		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	82										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gcagttttagggggaaaagct	0.353																																																	0													31.0	35.0	34.0					1																	62672545		2199	4296	6495	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.245G>C	1.37:g.62672545G>C	ENSP00000419901:p.Gly82Ala		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.G82A	ENST00000498273.1	37	c.245	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	6.197	0.404431	0.11754	.	.	ENSG00000240563	ENST00000498273	T	0.10382	2.88	2.21	-0.0382	0.13881	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	B	0.24618	0.107	B	0.19666	0.026	T	0.42649	-0.9439	9	0.02654	T	1	.	3.753	0.08573	0.0:0.2275:0.4063:0.3661	.	82	Q5T7N2	LITD1_HUMAN	A	82	ENSP00000419901:G82A	ENSP00000419901:G82A	G	+	2	0	L1TD1	62445133	0.046000	0.20272	0.001000	0.08648	0.046000	0.14306	0.356000	0.20181	-0.012000	0.14223	0.313000	0.20887	GGG	L1TD1	-	NULL		0.353	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	G	NM_019079		62672545	+1	no_errors	ENST00000498273	ensembl	human	known	70_37	missense	SNP	0.001	C
LATS2	26524	genome.wustl.edu	37	13	21619910	21619910	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:21619910G>A	ENST00000382592.4	-	2	661	c.256C>T	c.(256-258)Cct>Tct	p.P86S	LATS2_ENST00000542899.1_Missense_Mutation_p.P86S	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAGCAAAAGGCAACAAGGAA	0.537																																																	0													99.0	89.0	92.0					13																	21619910		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.256C>T	13.37:g.21619910G>A	ENSP00000372035:p.Pro86Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P86S	ENST00000382592.4	37	c.256	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.123592	0.94429	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000002	T	0.72542	0.3473	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75528	-0.3286	10	0.87932	D	0	.	19.7236	0.96153	0.0:0.0:1.0:0.0	.	86	Q9NRM7	LATS2_HUMAN	S	86	ENSP00000372035:P86S;ENSP00000441817:P86S	ENSP00000372035:P86S	P	-	1	0	LATS2	20517910	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.324000	0.96373	2.730000	0.93505	0.655000	0.94253	CCT	LATS2	-	NULL		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	G			21619910	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	missense	SNP	1.000	A
LCE3C	353144	genome.wustl.edu	37	1	152573352	152573352	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:152573352G>C	ENST00000333881.3	+	1	215	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	49					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCCCAGTTCTGAAAGTGGCTG	0.617																																																	0													61.0	56.0	58.0					1																	152573352		1817	2724	4541	SO:0001583	missense	353144			BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"""Late cornified envelopes"""	16612	protein-coding gene	gene with protein product		612615	"""small proline rich-like (epidermal differentiation complex) 3A"""	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.145G>C	1.37:g.152573352G>C	ENSP00000334644:p.Glu49Gln		A1L420	Missense_Mutation	SNP	NULL	p.E49Q	ENST00000333881.3	37	c.145	CCDS1015.1	1	.	.	.	.	.	.	.	.	.	.	G	4.986	0.183081	0.09495	.	.	ENSG00000244057	ENST00000333881	T	0.04015	3.73	3.86	3.86	0.44501	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.25703	N	0.985569	D	0.61697	0.99	P	0.55260	0.772	T	0.11966	-1.0566	8	0.87932	D	0	.	11.1394	0.48394	0.0:0.0:1.0:0.0	.	49	Q5T5A8	LCE3C_HUMAN	Q	49	ENSP00000334644:E49Q	ENSP00000334644:E49Q	E	+	1	0	LCE3C	150839976	0.046000	0.20272	0.856000	0.33681	0.107000	0.19398	1.717000	0.37991	1.985000	0.57927	0.313000	0.20887	GAA	LCE3C	-	NULL		0.617	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3C	HGNC	protein_coding	OTTHUMT00000040061.2	G	NM_178434		152573352	+1	no_errors	ENST00000333881	ensembl	human	known	70_37	missense	SNP	0.927	C
LEPREL1	55214	genome.wustl.edu	37	3	189713147	189713147	+	Missense_Mutation	SNP	C	C	G	rs371483753		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:189713147C>G	ENST00000319332.5	-	2	762	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E8Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	189					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTAATTCTCAATGTTCTGC	0.488																																																	0													160.0	134.0	143.0					3																	189713147		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.565G>C	3.37:g.189713147C>G	ENSP00000316881:p.Glu189Gln		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E189Q	ENST00000319332.5	37	c.565	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247908	0.59103	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.62941	-0.01;0.96;0.96;0.96	5.34	3.57	0.40892	Tetratricopeptide-like helical (1);	0.102488	0.64402	D	0.000003	T	0.50888	0.1642	L	0.41492	1.28	0.43798	D	0.996345	P	0.38582	0.638	B	0.39904	0.313	T	0.41052	-0.9530	9	.	.	.	-12.8742	8.6762	0.34181	0.0:0.7699:0.0:0.2301	.	189	Q8IVL5	P3H2_HUMAN	Q	189;8;8;8	ENSP00000316881:E189Q;ENSP00000408947:E8Q;ENSP00000391374:E8Q;ENSP00000394326:E8Q	.	E	-	1	0	LEPREL1	191195841	1.000000	0.71417	0.735000	0.30896	0.766000	0.43426	4.458000	0.60095	0.839000	0.34971	0.655000	0.94253	GAG	LEPREL1	-	NULL		0.488	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189713147	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	0.971	G
LGALS8	3964	genome.wustl.edu	37	1	236703888	236703888	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:236703888C>G	ENST00000366584.4	+	5	936	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	LGALS8_ENST00000525042.1_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.L124V|LGALS8_ENST00000526589.1_Missense_Mutation_p.L124V|LGALS8_ENST00000450372.2_Missense_Mutation_p.L124V|LGALS8_ENST00000352231.2_Missense_Mutation_p.L124V|LGALS8_ENST00000416919.2_Intron|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.L124V|LGALS8_ENST00000323938.6_Missense_Mutation_p.L97V|LGALS8_ENST00000341872.6_Missense_Mutation_p.L124V	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	124	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAAACATACTCTGCTCTATGG	0.418																																																	0													114.0	121.0	119.0					1																	236703888		2203	4300	6503	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.370C>G	1.37:g.236703888C>G	ENSP00000355543:p.Leu124Val		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L124V	ENST00000366584.4	37	c.370	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434531	0.43224	.	.	ENSG00000116977	ENST00000454943;ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000323938;ENST00000526634	T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	5.46	3.48	0.39840	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.19886	0.0478	M	0.70275	2.135	0.80722	D	1	D;P	0.71674	0.998;0.762	D;P	0.71184	0.972;0.534	T	0.00677	-1.1614	10	0.42905	T	0.14	-3.65	10.9005	0.47049	0.0:0.7868:0.0:0.2132	.	124;124	O00214;O00214-2	LEG8_HUMAN;.	V	124;124;124;124;124;124;124;124;124;97;124	ENSP00000405504:L124V;ENSP00000431398:L124V;ENSP00000309576:L124V;ENSP00000385999:L124V;ENSP00000435460:L124V;ENSP00000342139:L124V;ENSP00000408657:L124V;ENSP00000355543:L124V;ENSP00000434860:L97V;ENSP00000437040:L124V	ENSP00000434860:L97V	L	+	1	2	LGALS8	234770511	0.670000	0.27512	0.374000	0.26016	0.488000	0.33401	1.307000	0.33516	1.549000	0.49425	-0.136000	0.14681	CTG	LGALS8	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.418	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	C	NM_006499		236703888	+1	no_errors	ENST00000352231	ensembl	human	known	70_37	missense	SNP	0.724	G
LINC00086	399668	genome.wustl.edu	37	X	134556133	134556133	+	lincRNA	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:134556133C>G	ENST00000417443.2	+	0	266					NR_024359.1				long intergenic non-protein coding RNA 86																		CTGTCGCGCTCAGCTGCGGCC	0.756																																																	0																																												399668			BC030620, BC051704		Xq26.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000178947	ENSG00000178947		"""Long non-coding RNAs"""	34499	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 86"""	NCRNA00086			Standard	NR_024359		Approved	MGC39606	uc004eyv.4		OTTHUMG00000022479		X.37:g.134556133C>G				RNA	SNP	-	NULL	ENST00000417443.2	37	NULL		X																																																																																			LINC00086	-	-		0.756	LINC00086-001	KNOWN	basic	lincRNA	LINC00086	HGNC	lincRNA	OTTHUMT00000058412.2	C			134556133	+1	no_errors	ENST00000417443	ensembl	human	known	70_37	rna	SNP	0.995	G
PIEZO1	9780	genome.wustl.edu	37	16	88803470	88803470	+	Intron	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:88803470C>G	ENST00000301015.9	-	11	1442				RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTGCTTCATTCAGAAACACAT	0.547																																																	0																																										SO:0001627	intron_variant	100289580			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1196-323G>C	16.37:g.88803470C>G			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.2	-	-		0.547	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	LOC100289580	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	C	NM_014745		88803470	+1	no_errors	ENST00000567968	ensembl	human	known	70_37	rna	SNP	0.000	G
LOC101930127	101930127	genome.wustl.edu	37	11	134704	134704	+	RNA	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:134704G>A	ENST00000527297.1	+	0	235																											CGTAGGGTATGGGCCTAAATA	0.577																																																	0																																												101060495																															11.37:g.134704G>A				RNA	SNP	-	NULL	ENST00000527297.1	37	NULL		11																																																																																			RP11-304M2.2	-	-		0.577	RP11-304M2.3-001	KNOWN	basic	antisense	LOC101060495	Clone_based_vega_gene	antisense	OTTHUMT00000384758.1	G			134704	-1	no_errors	ENST00000527683	ensembl	human	known	70_37	rna	SNP	0.141	A
Unknown	0	genome.wustl.edu	37	16	21531526	21531526	+	IGR	SNP	T	T	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:21531526T>C								MIR3680-1 (14070 upstream) : SCARNA6 (67421 downstream)																							GGCCACGCCCTTGAGTAGCGT	0.716																																																	0																																										SO:0001628	intergenic_variant	101060596																															16.37:g.21531526T>C				RNA	SNP	-	NULL		37	NULL		16																																																																																			CTD-2547E10.2	-	-	0	0.716					LOC101060596	Clone_based_vega_gene			T			21531526	-1	no_errors	ENST00000522841	ensembl	human	known	70_37	rna	SNP	1.000	C
LOC220729	220729	genome.wustl.edu	37	3	197350172	197350172	+	RNA	SNP	T	T	C	rs200151765		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:197350172T>C	ENST00000418868.1	-	0	294					NR_003266.2																						AAAGGCCAAATGCAGCTCGCA	0.498																																																	0																																												220729																															3.37:g.197350172T>C				RNA	SNP	-	NULL	ENST00000418868.1	37	NULL		3																																																																																			AC024560.3	-	-		0.498	AC024560.3-001	KNOWN	basic	processed_transcript	LOC220729	Clone_based_vega_gene	pseudogene	OTTHUMT00000340283.1	T			197350172	-1	no_errors	ENST00000414207	ensembl	human	known	70_37	rna	SNP	0.997	C
LPHN3	23284	genome.wustl.edu	37	4	62903458	62903458	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:62903458G>A	ENST00000514591.1	+	23	3726	c.3397G>A	c.(3397-3399)Gag>Aag	p.E1133K	LPHN3_ENST00000508946.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000511324.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000507164.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000514157.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000507625.1_Missense_Mutation_p.E1192K|LPHN3_ENST00000509896.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506720.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506700.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000512091.2_Missense_Mutation_p.E1133K|LPHN3_ENST00000545650.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000504896.1_Missense_Mutation_p.E1133K|LPHN3_ENST00000514996.1_Missense_Mutation_p.E1124K|LPHN3_ENST00000508693.1_Missense_Mutation_p.E1201K|LPHN3_ENST00000506746.1_Missense_Mutation_p.E1192K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGTACGAAAAGAGTATGGGAA	0.383																																																	0													130.0	128.0	129.0					4																	62903458		1907	4146	6053	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3397G>A	4.37:g.62903458G>A	ENSP00000422533:p.Glu1133Lys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.E1192K	ENST00000514591.1	37	c.3574	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.169489|5.169489	0.94768|0.94768	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.110642|.	0.64402|.	D|.	0.000012|.	T|T	0.75860|0.75860	0.3907|0.3907	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.78314|.	0.98;0.98;0.991|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|5	0.87932|.	D|.	0|.	.|.	19.0694|19.0694	0.93126|0.93126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1133;1111;1133|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	K|K	1133;1133;1201;1192;1124;1133;1111;1133;1192;1201;1192;1124;1133;1133;1201;1192;1124|581	ENSP00000423388:E1133K;ENSP00000422533:E1133K;ENSP00000423787:E1201K;ENSP00000425033:E1192K;ENSP00000424120:E1124K;ENSP00000439831:E1133K;ENSP00000421476:E1192K;ENSP00000424030:E1201K;ENSP00000421372:E1192K;ENSP00000425201:E1124K;ENSP00000423434:E1133K;ENSP00000421627:E1133K;ENSP00000420931:E1201K;ENSP00000425884:E1192K;ENSP00000424258:E1124K|.	ENSP00000280009:E1133K|.	E|R	+|+	1|2	0|0	LPHN3|LPHN3	62586053|62586053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.395000|9.395000	0.97266|0.97266	2.566000|2.566000	0.86566|0.86566	0.650000|0.650000	0.86243|0.86243	GAG|AGA	LPHN3	-	prints_GPCR_2_latrophilin		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62903458	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A
LPIN1	23175	genome.wustl.edu	37	2	11913826	11913826	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:11913826C>T	ENST00000256720.2	+	5	770	c.677C>T	c.(676-678)tCa>tTa	p.S226L	LPIN1_ENST00000396099.1_Missense_Mutation_p.S232L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S232L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S275L|LPIN1_ENST00000396098.1_Missense_Mutation_p.S232L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	226					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TACCCTCAGTCAGCCTCATAC	0.473																																																	0													129.0	128.0	128.0					2																	11913826		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.677C>T	2.37:g.11913826C>T	ENSP00000256720:p.Ser226Leu		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.S275L	ENST00000256720.2	37	c.824	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441279	0.63067	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.88741	-1.42;-2.42;-1.41;-1.46;-1.46	5.49	5.49	0.81192	.	0.386692	0.27202	N	0.020449	D	0.87549	0.6205	M	0.61703	1.905	0.80722	D	1	B;B;B	0.20671	0.004;0.004;0.047	B;B;B	0.22601	0.025;0.006;0.04	T	0.83206	-0.0076	10	0.27082	T	0.32	-6.8908	16.5233	0.84322	0.0:1.0:0.0:0.0	.	275;226;232	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	L	275;232;232;232;226	ENSP00000397908:S275L;ENSP00000379405:S232L;ENSP00000379406:S232L;ENSP00000401522:S232L;ENSP00000256720:S226L	ENSP00000256720:S226L	S	+	2	0	LPIN1	11831277	0.998000	0.40836	0.971000	0.41717	0.845000	0.48019	4.829000	0.62737	2.591000	0.87537	0.591000	0.81541	TCA	LPIN1	-	NULL		0.473	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	C	NM_145693		11913826	+1	no_errors	ENST00000449576	ensembl	human	known	70_37	missense	SNP	0.990	T
LPL	4023	genome.wustl.edu	37	8	19816872	19816872	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:19816872G>C	ENST00000311322.8	+	7	1590	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	374	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCCGAGAGTGAGAACATCCC	0.507																																																	0													84.0	77.0	79.0					8																	19816872		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1120G>C	8.37:g.19816872G>C	ENSP00000309757:p.Glu374Gln		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.E374Q	ENST00000311322.8	37	c.1120	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295592	0.40594	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.72051	-0.62	5.93	5.93	0.95920	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.100118	0.64402	D	0.000002	T	0.69762	0.3147	L	0.28344	0.845	0.35395	D	0.791096	P	0.45126	0.851	P	0.51550	0.673	T	0.67268	-0.5713	8	.	.	.	-37.6501	17.8463	0.88731	0.0:0.0:1.0:0.0	.	374	P06858	LIPL_HUMAN	Q	374;360	ENSP00000309757:E374Q	.	E	+	1	0	LPL	19861152	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	5.326000	0.65875	2.815000	0.96918	0.643000	0.83706	GAG	LPL	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,tigrfam_Lipo_Lipase		0.507	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	G			19816872	+1	no_errors	ENST00000311322	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC66	339977	genome.wustl.edu	37	4	52861485	52861485	+	Nonsense_Mutation	SNP	G	G	C	rs78693090		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:52861485G>C	ENST00000343457.3	-	4	1709	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	568						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATAACGGCTTGAGCCAGAGAC	0.502																																																	0													101.0	112.0	108.0					4																	52861485		2169	4288	6457	SO:0001587	stop_gained	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1703C>G	4.37:g.52861485G>C	ENSP00000341944:p.Ser568*			Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S568*	ENST00000343457.3	37	c.1703	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078363	0.55753	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.15	2.37	0.29283	.	0.203944	0.24820	N	0.035325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.0085	6.7394	0.23426	0.0998:0.1797:0.7205:0.0	.	.	.	.	X	568	.	ENSP00000341944:S568X	S	-	2	0	LRRC66	52556242	0.019000	0.18553	0.001000	0.08648	0.001000	0.01503	1.512000	0.35812	0.490000	0.27771	-0.229000	0.12294	TCA	LRRC66	-	NULL		0.502	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	G	NM_001024611		52861485	-1	no_errors	ENST00000343457	ensembl	human	known	70_37	nonsense	SNP	0.002	C
LRRFIP1	9208	genome.wustl.edu	37	2	238680788	238680788	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:238680788C>G	ENST00000308482.9	+	21	1643	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C	LRRFIP1_ENST00000468950.1_3'UTR	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATCTTCGATCTGAAGATGAT	0.398																																																	0													112.0	104.0	107.0					2																	238680788		1568	3582	5150	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1574C>G	2.37:g.238680788C>G	ENSP00000310109:p.Ser525Cys		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin	p.S525C	ENST00000308482.9	37	c.1574	CCDS46551.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023122	0.54683	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.46451	0.87	5.35	5.35	0.76521	.	.	.	.	.	T	0.58438	0.2122	M	0.66939	2.045	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.54924	0.764;0.764	T	0.60409	-0.7269	9	0.56958	D	0.05	.	18.0808	0.89440	0.0:1.0:0.0:0.0	.	279;525	B4DPC0;E9PGZ2	.;.	C	525;515	ENSP00000310109:S525C	ENSP00000310109:S525C	S	+	2	0	LRRFIP1	238345527	0.063000	0.20901	0.004000	0.12327	0.012000	0.07955	2.759000	0.47573	2.491000	0.84063	0.557000	0.71058	TCT	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.398	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000257169.3	C	NM_004735		238680788	+1	no_errors	ENST00000308482	ensembl	human	putative	70_37	missense	SNP	0.056	G
MAGEB3	4114	genome.wustl.edu	37	X	30254899	30254899	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:30254899G>A	ENST00000361644.2	+	5	1595	c.858G>A	c.(856-858)atG>atA	p.M286I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	286	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCAGCAAGATGAAGGTCCTGG	0.488																																																	0													98.0	86.0	90.0					X																	30254899		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.858G>A	X.37:g.30254899G>A	ENSP00000355198:p.Met286Ile		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.M286I	ENST00000361644.2	37	c.858	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551259	0.45383	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05319	3.46;3.46	4.3	4.3	0.51218	.	0.325746	0.29145	U	0.013001	T	0.24431	0.0592	M	0.91140	3.18	0.24401	N	0.99471	P	0.52170	0.951	P	0.55999	0.789	T	0.11991	-1.0565	10	0.87932	D	0	.	11.0211	0.47718	0.0:0.0:1.0:0.0	.	286	O15480	MAGB3_HUMAN	I	286	ENSP00000368271:M286I;ENSP00000355198:M286I	ENSP00000355198:M286I	M	+	3	0	MAGEB3	30164820	0.984000	0.35163	0.913000	0.36048	0.018000	0.09664	1.897000	0.39799	2.367000	0.80283	0.600000	0.82982	ATG	MAGEB3	-	pfam_MAGE,pfscan_MAGE		0.488	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	G	NM_002365		30254899	+1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.912	A
MAGEC3	139081	genome.wustl.edu	37	X	140967211	140967211	+	Missense_Mutation	SNP	C	C	T	rs369863174		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:140967211C>T	ENST00000298296.1	+	3	509	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	170										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGAAAGCGGGGAGGTGG	0.592																																																	0									VAL/ALA	0,3825		0,0,1632,561	23.0	20.0	21.0		509	-1.4	0.0	X		21	1,6705		0,1,2426,1852	no	missense	MAGEC3	NM_138702.1	64	0,1,4058,2413	TT,TC,CC,C		0.0149,0.0,0.0095	benign	170/644	140967211	1,10530	2193	4279	6472	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.509C>T	X.37:g.140967211C>T	ENSP00000298296:p.Ala170Val		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A170V	ENST00000298296.1	37	c.509	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	C	0.182	-1.061596	0.01950	0.0	1.49E-4	ENSG00000165509	ENST00000298296	T	0.03152	4.03	0.71	-1.42	0.08913	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45190	-0.9278	8	0.13470	T	0.59	.	.	.	.	.	170	Q8TD91	MAGC3_HUMAN	V	170	ENSP00000298296:A170V	ENSP00000298296:A170V	A	+	2	0	MAGEC3	140794877	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	-0.963000	0.03837	-2.665000	0.00417	-2.004000	0.00443	GCG	MAGEC3	-	NULL		0.592	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140967211	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.000	T
MAGI2	9863	genome.wustl.edu	37	7	77789588	77789588	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:77789588C>G	ENST00000354212.4	-	16	2852	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.E867Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.E853Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	867					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGCAGGGCTCCCCTGCAAAA	0.502																																																	0													91.0	90.0	90.0					7																	77789588		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2599G>C	7.37:g.77789588C>G	ENSP00000346151:p.Glu867Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E867Q	ENST00000354212.4	37	c.2599	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431512	0.62844	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.87;2.86;2.75	5.51	5.51	0.81932	.	0.000000	0.36854	U	0.002372	T	0.10380	0.0254	L	0.40543	1.245	0.80722	D	1	B;P;P	0.41848	0.376;0.763;0.651	B;B;B	0.33521	0.154;0.165;0.116	T	0.20306	-1.0279	10	0.23302	T	0.38	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	867;853;867	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Q	853;867;867;867	ENSP00000405766:E853Q;ENSP00000346151:E867Q;ENSP00000428389:E867Q	ENSP00000346151:E867Q	E	-	1	0	MAGI2	77627524	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	GAG	MAGI2	-	NULL		0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	C	NM_012301		77789588	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	missense	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65271870	65271870	+	lincRNA	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:65271870G>A	ENST00000534336.1	+	0	6638					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTACTGTTCTGATCCCGCTGC	0.388																																																	0													46.0	45.0	45.0					11																	65271870		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271870G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.388	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65271870	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.628	A
MAN2C1	4123	genome.wustl.edu	37	15	75648960	75648960	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:75648960C>T	ENST00000267978.5	-	23	2770	c.2724G>A	c.(2722-2724)ctG>ctA	p.L908L	MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000565683.1_Silent_p.L925L|MAN2C1_ENST00000563622.1_Silent_p.L809L|MAN2C1_ENST00000569482.1_Silent_p.L908L|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	908					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTGCGGCATCAGTGCATAGG	0.667																																																	0													20.0	21.0	21.0					15																	75648960		2184	4277	6461	SO:0001819	synonymous_variant	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2724G>A	15.37:g.75648960C>T			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L908	ENST00000267978.5	37	c.2724	CCDS32298.1	15																																																																																			MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.667	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	C			75648960	-1	no_errors	ENST00000267978	ensembl	human	known	70_37	silent	SNP	0.982	T
MAST1	22983	genome.wustl.edu	37	19	12954365	12954365	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:12954365C>G	ENST00000251472.4	+	4	310	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	MAST1_ENST00000591495.1_Missense_Mutation_p.L87V	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCGGTGGTCTCTGGCCTCGCT	0.642																																																	0													66.0	57.0	60.0					19																	12954365		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.271C>G	19.37:g.12954365C>G	ENSP00000251472:p.Leu91Val			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.L91V	ENST00000251472.4	37	c.271	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623970	0.46840	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.27557	1.66	4.43	3.4	0.38934	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.56097	D	0.000037	T	0.27241	0.0668	L	0.31157	0.91	0.39977	D	0.97486	P;B	0.48911	0.917;0.421	P;B	0.52031	0.688;0.264	T	0.06391	-1.0829	10	0.18276	T	0.48	-16.3566	7.036	0.24993	0.0:0.7921:0.0:0.2079	.	91;91	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	V	91	ENSP00000251472:L91V	ENSP00000251472:L91V	L	+	1	2	MAST1	12815365	0.819000	0.29175	1.000000	0.80357	0.994000	0.84299	1.497000	0.35649	0.998000	0.38996	0.655000	0.94253	CTG	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom		0.642	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	C	NM_014975		12954365	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.998	G
MCF2	4168	genome.wustl.edu	37	X	138698554	138698554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:138698554G>A	ENST00000370576.4	-	9	1287	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q360*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q505*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q321*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q360*|MCF2_ENST00000520602.1_Nonsense_Mutation_p.Q420*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q420*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q420*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	360					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAGCTTTCTGAGCATCTTCT	0.348																																																	0													55.0	54.0	54.0					X																	138698554		2202	4296	6498	SO:0001587	stop_gained	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1078C>T	X.37:g.138698554G>A	ENSP00000359608:p.Gln360*		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q505*	ENST00000370576.4	37	c.1513	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.080785	0.97267	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	.	.	.	5.84	2.95	0.34219	.	0.156524	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.6185	0.76787	0.0:0.4267:0.5733:0.0	.	.	.	.	X	420;360;321;505;420;420;360;360	.	ENSP00000342204:Q360X	Q	-	1	0	MCF2	138526220	0.999000	0.42202	0.926000	0.36857	0.988000	0.76386	2.453000	0.44970	0.138000	0.18790	0.544000	0.68410	CAG	MCF2	-	NULL		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	G	NM_005369		138698554	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MCM3AP	8888	genome.wustl.edu	37	21	47662235	47662235	+	Intron	DEL	T	T	-	rs373542871		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr21:47662235delT	ENST00000397708.1	-	26	5681				MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_Intron			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					aagttaggacttttttttttt	0.318																																																	0																																										SO:0001627	intron_variant	114044			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+480A>-	21.37:g.47662235delT			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	DEL	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-		0.318	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	T	NM_003906		47662235	+1	no_errors	ENST00000421927	ensembl	human	known	70_37	rna	DEL	0.165	-
MCM5	4174	genome.wustl.edu	37	22	35804446	35804446	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:35804446C>T	ENST00000216122.4	+	6	796	c.642C>T	c.(640-642)atC>atT	p.I214I	MCM5_ENST00000382011.5_Silent_p.I171I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	214					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTACTTCATCATGCCCGACA	0.557																																																	0													88.0	74.0	79.0					22																	35804446		2203	4300	6503	SO:0001819	synonymous_variant	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.642C>T	22.37:g.35804446C>T			O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.I214	ENST00000216122.4	37	c.642	CCDS13915.1	22																																																																																			MCM5	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.557	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	C			35804446	+1	no_errors	ENST00000216122	ensembl	human	known	70_37	silent	SNP	1.000	T
MCMDC2	157777	genome.wustl.edu	37	8	67796113	67796113	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:67796113C>T	ENST00000422365.2	+	9	1128	c.957C>T	c.(955-957)taC>taT	p.Y319Y	MCMDC2_ENST00000313616.5_Silent_p.Y319Y|MCMDC2_ENST00000541540.1_Silent_p.Y256Y|MCMDC2_ENST00000396592.3_Silent_p.Y319Y|MCMDC2_ENST00000492775.1_Silent_p.Y319Y	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	319					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CTGGGACTTACAATTTGCTCA	0.403																																																	0													77.0	72.0	74.0					8																	67796113		2203	4300	6503	SO:0001819	synonymous_variant	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.957C>T	8.37:g.67796113C>T			B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.Y319	ENST00000422365.2	37	c.957	CCDS6197.2	8																																																																																			MCMDC2	-	smart_MCM_DNA-dep_ATPase		0.403	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	C	NM_173518		67796113	+1	no_errors	ENST00000422365	ensembl	human	known	70_37	silent	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90383177	90383177	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:90383177C>G	ENST00000369393.3	-	80	13367	c.13252G>C	c.(13252-13254)Gat>Cat	p.D4418H	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.D4418H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4418					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTCAAAATCTTTCCTGCAA	0.463																																																	0													63.0	57.0	59.0					6																	90383177		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13252G>C	6.37:g.90383177C>G	ENSP00000358400:p.Asp4418His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4418H	ENST00000369393.3	37	c.13252	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349137	0.24426	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03386	3.95;3.95	5.65	4.74	0.60224	.	0.194155	0.43747	D	0.000540	T	0.01627	0.0052	L	0.37897	1.145	0.36267	D	0.854911	B	0.06786	0.001	B	0.09377	0.004	T	0.49082	-0.8976	10	0.29301	T	0.29	.	12.5679	0.56320	0.0:0.7984:0.1301:0.0715	.	4418	Q9NU22	MDN1_HUMAN	H	4418	ENSP00000358400:D4418H;ENSP00000413970:D4418H	ENSP00000358400:D4418H	D	-	1	0	MDN1	90439898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.668000	0.37481	2.663000	0.90544	0.655000	0.94253	GAT	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383177	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G
MED23	9439	genome.wustl.edu	37	6	131917763	131917763	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:131917763G>C	ENST00000368068.3	-	21	2852	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	MED23_ENST00000354577.4_Silent_p.L897L|MED23_ENST00000368058.1_Silent_p.L897L|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000403834.3_Silent_p.L897L|MED23_ENST00000368060.3_Silent_p.L891L|MED23_ENST00000545957.1_Silent_p.L532L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	891					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CGTTTGGTTTGAGTAACAGCA	0.373																																																	0													119.0	118.0	118.0					6																	131917763		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2673C>G	6.37:g.131917763G>C			B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L897	ENST00000368068.3	37	c.2691	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131917763	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.989	C
MEN1	4221	genome.wustl.edu	37	11	64577150	64577150	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64577150G>A	ENST00000337652.1	-	2	935	c.432C>T	c.(430-432)ttC>ttT	p.F144F	MEN1_ENST00000377326.3_Silent_p.F144F|MEN1_ENST00000443283.1_Silent_p.F144F|MEN1_ENST00000377313.1_Silent_p.F144F|MEN1_ENST00000315422.4_Silent_p.F144F|MEN1_ENST00000394376.1_Silent_p.F144F|MEN1_ENST00000312049.6_Silent_p.F144F|MEN1_ENST00000377316.2_Silent_p.F144F|MEN1_ENST00000394374.2_Silent_p.F144F|MEN1_ENST00000377321.1_Silent_p.F144F	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	144			F -> V (in MEN1). {ECO:0000269|PubMed:15714081}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGATGAAGCTGAAGAGGGACT	0.512			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			GRCh37	CX055790	MEN1	X							143.0	147.0	146.0					11																	64577150		2201	4297	6498	SO:0001819	synonymous_variant	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.432C>T	11.37:g.64577150G>A			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Menin	p.F144	ENST00000337652.1	37	c.432	CCDS8083.1	11																																																																																			MEN1	-	pfam_Menin		0.512	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	G			64577150	-1	no_errors	ENST00000337652	ensembl	human	known	70_37	silent	SNP	1.000	A
MEOX1	4222	genome.wustl.edu	37	17	41738509	41738509	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:41738509C>T	ENST00000318579.4	-	1	813	c.394G>A	c.(394-396)Gat>Aat	p.D132N	MEOX1_ENST00000549132.1_Silent_p.A102A|MEOX1_ENST00000329168.3_Missense_Mutation_p.D132N|MEOX1_ENST00000393661.2_Missense_Mutation_p.D17N	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	132					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCGTAGTCATCGCCTGGGCCT	0.627																																																	0													117.0	126.0	123.0					17																	41738509		2203	4300	6503	SO:0001583	missense	4222				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.394G>A	17.37:g.41738509C>T	ENSP00000321684:p.Asp132Asn		A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D132N	ENST00000318579.4	37	c.394	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601624	0.46423	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.90788	-2.71;0.9;-2.73	4.92	4.92	0.64577	.	0.108901	0.64402	D	0.000005	T	0.79137	0.4395	N	0.08118	0	0.20764	N	0.999857	P;B	0.35433	0.501;0.103	B;B	0.24394	0.053;0.032	T	0.71334	-0.4624	10	0.34782	T	0.22	-24.8432	16.4865	0.84185	0.0:1.0:0.0:0.0	.	132;132	Q15069;P50221	.;MEOX1_HUMAN	N	132;132;17	ENSP00000321684:D132N;ENSP00000328678:D132N;ENSP00000377271:D17N	ENSP00000321684:D132N	D	-	1	0	MEOX1	39094035	1.000000	0.71417	0.951000	0.38953	0.442000	0.32017	6.673000	0.74482	2.553000	0.86117	0.655000	0.94253	GAT	MEOX1	-	NULL		0.627	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	C			41738509	-1	no_errors	ENST00000318579	ensembl	human	known	70_37	missense	SNP	0.999	T
MLLT3	4300	genome.wustl.edu	37	9	20346377	20346378	+	3'UTR	INS	-	-	A	rs543672849	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:20346377_20346378insA	ENST00000380338.4	-	0	2056_2057				MLLT3_ENST00000355930.6_3'UTR|MLLT3_ENST00000429426.2_3'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AAATCACAACCaaaaaaaaaaa	0.292			T	MLL	ALL								|||unknown(HR)	1001	0.19988	0.2027	0.2046	5008	,	,		17757	0.1825		0.2127	False		,,,				2504	0.1973							Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0																																										SO:0001624	3_prime_UTR_variant	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.*64->T	9.37:g.20346388_20346388dupA			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	RNA	INS	-	NULL	ENST00000380338.4	37	NULL	CCDS6494.1	9																																																																																			MLLT3	-	-		0.292	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	NM_004529		20346378	-1	no_errors	ENST00000469261	ensembl	human	known	70_37	rna	INS	1.000:0.966	A
MLLT4	4301	genome.wustl.edu	37	6	168273011	168273011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:168273011C>T	ENST00000447894.2	+	4	532	c.532C>T	c.(532-534)Cga>Tga	p.R178*	MLLT4_ENST00000344191.4_Nonsense_Mutation_p.R178*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.R178*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.R177*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.R177*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.R178*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.R178*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	178					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agagGCATTGCGACAGGCATC	0.393			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													101.0	105.0	104.0					6																	168273011		2203	4299	6502	SO:0001587	stop_gained	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.532C>T	6.37:g.168273011C>T	ENSP00000404595:p.Arg178*		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.R178*	ENST00000447894.2	37	c.532		6	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591931	0.46214	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	.	.	.	5.51	-0.575	0.11734	.	0.148295	0.45867	D	0.000340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-8.3041	16.244	0.82431	0.3631:0.6369:0.0:0.0	.	.	.	.	X	178;178;178;178;178;177;178;179;177;178	.	ENSP00000345834:R178X	R	+	1	2	MLLT4	168015860	0.972000	0.33761	0.770000	0.31555	0.115000	0.19883	1.079000	0.30766	0.090000	0.17273	0.467000	0.42956	CGA	MLLT4	-	NULL		0.393	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168273011	+1	no_errors	ENST00000366806	ensembl	human	known	70_37	nonsense	SNP	0.796	T
MLLT6	4302	genome.wustl.edu	37	17	36883387	36883387	+	3'UTR	DEL	T	T	-			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:36883387delT	ENST00000325718.7	+	0	4909					NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					tgttgttgggttttttttttt	0.393			T	MLL	AL																																			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0																																										SO:0001624	3_prime_UTR_variant	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.*1536T>-	17.37:g.36883387delT			Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	DEL	-	NULL	ENST00000325718.7	37	NULL	CCDS11327.1	17																																																																																			MLLT6	-	-		0.393	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	T	NM_005937		36883387	+1	no_errors	ENST00000582830	ensembl	human	putative	70_37	rna	DEL	0.276	-
MLPH	79083	genome.wustl.edu	37	2	238419253	238419253	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:238419253G>C	ENST00000264605.3	+	3	441	c.147G>C	c.(145-147)aaG>aaC	p.K49N	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.K49N|MLPH_ENST00000338530.4_Missense_Mutation_p.K49N|MLPH_ENST00000410032.1_Missense_Mutation_p.K49N|MLPH_ENST00000409373.1_Missense_Mutation_p.K49N	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	49	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AAAGCTCCAAGAGGGAGCTGC	0.502																																																	0													40.0	43.0	42.0					2																	238419253		2203	4299	6502	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.147G>C	2.37:g.238419253G>C	ENSP00000264605:p.Lys49Asn		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.K49N	ENST00000264605.3	37	c.147	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080908	0.76528	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.98	3.17	0.36434	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.310858	0.33346	N	0.005002	D	0.89403	0.6705	M	0.88906	2.99	0.41084	D	0.985547	D;D;D;D;D;D	0.76494	0.999;0.999;0.995;0.999;0.998;0.999	D;D;P;D;D;D	0.75020	0.933;0.966;0.823;0.985;0.956;0.918	D	0.88623	0.3164	10	0.54805	T	0.06	-2.272	10.0845	0.42410	0.1628:0.0:0.8372:0.0	.	49;49;49;49;49;49	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	N	49	ENSP00000409170:K49N;ENSP00000403909:K49N;ENSP00000386338:K49N;ENSP00000264605:K49N;ENSP00000414849:K49N;ENSP00000341845:K49N;ENSP00000386780:K49N	ENSP00000264605:K49N	K	+	3	2	MLPH	238083992	1.000000	0.71417	0.831000	0.32960	0.985000	0.73830	2.837000	0.48191	0.507000	0.28148	0.563000	0.77884	AAG	MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.502	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	G	NM_024101		238419253	+1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	1.000	C
MOAP1	64112	genome.wustl.edu	37	14	93649864	93649864	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:93649864C>T	ENST00000556883.1	-	2	1208	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	MOAP1_ENST00000298894.4_Missense_Mutation_p.G242R|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	242					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctgtaaccccaaatacctcc	0.443																																																	0													141.0	150.0	147.0					14																	93649864		2203	4300	6503	SO:0001583	missense	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.724G>A	14.37:g.93649864C>T	ENSP00000451594:p.Gly242Arg		B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	NULL	p.G242R	ENST00000556883.1	37	c.724	CCDS9908.1	14	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126152	0.56721	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.12147	2.71;2.71	3.66	2.75	0.32379	.	.	.	.	.	T	0.28366	0.0701	L	0.58428	1.81	0.32910	D	0.514394	D	0.71674	0.998	D	0.71656	0.974	T	0.29610	-1.0006	9	0.49607	T	0.09	-5.0387	8.5229	0.33287	0.2307:0.7693:0.0:0.0	.	242	Q96BY2	MOAP1_HUMAN	R	242	ENSP00000298894:G242R;ENSP00000451594:G242R	ENSP00000298894:G242R	G	-	1	0	MOAP1	92719617	1.000000	0.71417	0.979000	0.43373	0.967000	0.64934	1.231000	0.32624	1.106000	0.41623	0.650000	0.86243	GGG	MOAP1	-	NULL		0.443	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	C			93649864	-1	no_errors	ENST00000298894	ensembl	human	known	70_37	missense	SNP	0.988	T
MRPL2	51069	genome.wustl.edu	37	6	43027092	43027092	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:43027092G>A	ENST00000388752.3	-	1	452	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	KLC4_ENST00000453940.2_5'Flank|KLC4_ENST00000458460.2_5'Flank|MRPL2_ENST00000468957.1_Silent_p.L10L|MRPL2_ENST00000487429.1_Silent_p.L10L|KLC4_ENST00000347162.5_5'Flank|KLC4_ENST00000394056.2_5'Flank|KLC4_ENST00000394058.1_5'Flank|KLC4_ENST00000479388.1_5'Flank|KLC4_ENST00000259708.3_5'Flank|MRPL2_ENST00000489623.1_Silent_p.L10L|MRPL2_ENST00000230413.5_Silent_p.L10L	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	10					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AGAGAGCGCAGAGCGCGGGTC	0.652																																																	0													28.0	27.0	27.0					6																	43027092		2082	4059	6141	SO:0001819	synonymous_variant	51069			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.28C>T	6.37:g.43027092G>A			B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like	p.L10	ENST00000388752.3	37	c.28	CCDS34454.1	6																																																																																			MRPL2	-	NULL		0.652	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL2	HGNC	protein_coding	OTTHUMT00000040577.2	G			43027092	-1	no_errors	ENST00000388752	ensembl	human	known	70_37	silent	SNP	0.953	A
MRPL34	64981	genome.wustl.edu	37	19	17417161	17417161	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:17417161C>T	ENST00000252602.1	+	2	477	c.252C>T	c.(250-252)ctC>ctT	p.L84L	MRPL34_ENST00000595444.1_Silent_p.L176L|MRPL34_ENST00000602206.1_3'UTR|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000600434.1_Silent_p.L84L|MRPL34_ENST00000594999.1_Silent_p.L84L	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	84					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						GCCGAATGCTCAAGGGCCGCA	0.627																																																	0													8.0	11.0	10.0					19																	17417161		2160	4251	6411	SO:0001819	synonymous_variant	64981			AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.252C>T	19.37:g.17417161C>T				Silent	SNP	pfam_Ribosomal_L34,tigrfam_Ribosomal_L34	p.L84	ENST00000252602.1	37	c.252	CCDS12356.1	19																																																																																			MRPL34	-	pfam_Ribosomal_L34,tigrfam_Ribosomal_L34		0.627	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL34	HGNC	protein_coding	OTTHUMT00000463516.1	C	NM_023937		17417161	+1	no_errors	ENST00000252602	ensembl	human	known	70_37	silent	SNP	0.670	T
MRTO4	51154	genome.wustl.edu	37	1	19583621	19583621	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:19583621C>T	ENST00000330263.4	+	4	552	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	85					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAATACAAAGACAACC	0.537																																					GBM(192;2418 3032 7540 48714)												0													219.0	206.0	211.0					1																	19583621		2203	4300	6503	SO:0001819	synonymous_variant	51154			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.255C>T	1.37:g.19583621C>T			B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	pfam_Ribosomal_L10/acidic_P0	p.Y85	ENST00000330263.4	37	c.255	CCDS191.1	1																																																																																			MRTO4	-	pfam_Ribosomal_L10/acidic_P0		0.537	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	C	NM_016183		19583621	+1	no_errors	ENST00000330263	ensembl	human	known	70_37	silent	SNP	1.000	T
MRPL9	65005	genome.wustl.edu	37	1	151734851	151734851	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151734851C>T	ENST00000368830.3	-	3	520		c.e3+1		OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000315067.8_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000368829.3_Splice_Site|MRPL9_ENST00000467306.1_Splice_Site	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTGAGCTCACCAATTTCTCC	0.423																																																	0													109.0	110.0	110.0					1																	151734851		2203	4300	6503	SO:0001630	splice_region_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.435+1G>A	1.37:g.151734851C>T			B2RD99|Q5SZR2|Q9BSW8	Splice_Site	SNP	-	e3+1	ENST00000368830.3	37	c.435+1	CCDS1003.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554535	0.27739	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	.	.	.	4.94	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1791	0.48616	0.0:0.8148:0.1852:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPL9	150001475	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	5.351000	0.66022	1.294000	0.44707	-0.182000	0.12963	.	MRPL9	-	-		0.423	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	C	NM_031420	Intron	151734851	-1	no_errors	ENST00000368830	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MSANTD2	79684	genome.wustl.edu	37	11	124637152	124637152	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:124637152C>T	ENST00000374979.3	-	4	1608	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	MSANTD2_ENST00000239614.4_Missense_Mutation_p.E482K|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000526629.1_Missense_Mutation_p.E304K			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	534																	AAATCCCTCTCTACTTCTACA	0.408																																																	0													67.0	75.0	72.0					11																	124637152		2201	4299	6500	SO:0001583	missense	79684			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1600G>A	11.37:g.124637152C>T	ENSP00000364118:p.Glu534Lys		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.E534K	ENST00000374979.3	37	c.1600		11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258281	0.80246	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.66	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.76071	0.985;0.987	T	0.71507	-0.4572	9	0.87932	D	0	-5.4881	16.0813	0.81007	0.1349:0.8651:0.0:0.0	.	534;482	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	K	482;534;304	.	ENSP00000239614:E482K	E	-	1	0	C11orf61	124142362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.357000	0.79456	1.389000	0.46526	0.591000	0.81541	GAG	MSANTD2	-	NULL		0.408	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	C	NM_024631		124637152	-1	no_errors	ENST00000374979	ensembl	human	known	70_37	missense	SNP	1.000	T
MTHFD1L	25902	genome.wustl.edu	37	6	151286115	151286115	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:151286115G>A	ENST00000367321.3	+	19	2229	c.1955G>A	c.(1954-1956)gGt>gAt	p.G652D		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	652	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGGGTGACAGGTGCTTTGACA	0.418																																																	0													148.0	137.0	141.0					6																	151286115		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1955G>A	6.37:g.151286115G>A	ENSP00000356290:p.Gly652Asp		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.G652D	ENST00000367321.3	37	c.1955	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004312	0.93287	.	.	ENSG00000120254	ENST00000367321	T	0.52057	0.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.90483	3.12	0.80722	D	1	D;P;D	0.89917	1.0;0.949;1.0	D;D;D	0.85130	0.997;0.923;0.996	T	0.77310	-0.2635	10	0.87932	D	0	.	19.1058	0.93294	0.0:0.0:1.0:0.0	.	653;407;652	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	D	652	ENSP00000356290:G652D	ENSP00000356290:G652D	G	+	2	0	MTHFD1L	151327808	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.022000	0.93678	2.822000	0.97130	0.650000	0.86243	GGT	MTHFD1L	-	pfam_Formate_THF_ligase		0.418	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	G	NM_015440		151286115	+1	no_errors	ENST00000367321	ensembl	human	known	70_37	missense	SNP	1.000	A
MTUS2	23281	genome.wustl.edu	37	13	30071399	30071399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:30071399C>T	ENST00000380808.2	+	6	757	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Nonsense_Mutation_p.Q1212*|MTUS2_ENST00000542829.1_Nonsense_Mutation_p.Q91*	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1202						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGACCTTCCAGAGCCAGTC	0.592																																																	0													32.0	40.0	37.0					13																	30071399		2173	4270	6443	SO:0001587	stop_gained	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.541C>T	13.37:g.30071399C>T	ENSP00000370186:p.Gln181*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	NULL	p.Q1212*	ENST00000380808.2	37	c.3634	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.423686	0.98275	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8315	0.88684	0.0:1.0:0.0:0.0	.	.	.	.	X	1212;181;91;138	.	.	Q	+	1	0	MTUS2	28969399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.677000	0.91161	0.655000	0.94253	CAG	MTUS2	-	NULL		0.592	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	C	XM_166270		30071399	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77817203	77817203	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:77817203C>T	ENST00000544440.2	-	17	2523	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E836K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E874K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTCTTCCTTCCTCTAATCTG	0.408																																																	0													270.0	222.0	238.0					13																	77817203		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2506G>A	13.37:g.77817203C>T	ENSP00000444596:p.Glu836Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E874K	ENST00000544440.2	37	c.2620		13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987855	0.74589	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28255	1.62;1.62;1.62	5.48	5.48	0.80851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.126232	0.52532	D	0.000080	T	0.46092	0.1375	L	0.44542	1.39	0.58432	D	0.99999	P	0.52842	0.956	P	0.62184	0.899	T	0.09422	-1.0675	10	0.21540	T	0.41	.	19.3541	0.94404	0.0:1.0:0.0:0.0	.	836	O75592	MYCB2_HUMAN	K	836;874;836	ENSP00000349892:E836K;ENSP00000384288:E874K;ENSP00000444596:E836K	ENSP00000349892:E836K	E	-	1	0	MYCBP2	76715204	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.021000	0.76425	2.560000	0.86352	0.557000	0.71058	GAA	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold		0.408	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77817203	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77817206	77817206	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:77817206C>T	ENST00000544440.2	-	17	2520	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E835K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E873K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTCCTTCCTCTAATCTGTGC	0.413																																																	0													270.0	222.0	238.0					13																	77817206		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2503G>A	13.37:g.77817206C>T	ENSP00000444596:p.Glu835Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E873K	ENST00000544440.2	37	c.2617		13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949795	0.73787	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28895	1.6;1.59;1.6	5.48	5.48	0.80851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.205035	0.40554	N	0.001075	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.21917	0.037	T	0.03025	-1.1081	10	0.30854	T	0.27	.	19.3541	0.94404	0.0:1.0:0.0:0.0	.	835	O75592	MYCB2_HUMAN	K	835;873;835	ENSP00000349892:E835K;ENSP00000384288:E873K;ENSP00000444596:E835K	ENSP00000349892:E835K	E	-	1	0	MYCBP2	76715207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.021000	0.76425	2.560000	0.86352	0.557000	0.71058	GAG	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold		0.413	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77817206	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T
NACAD	23148	genome.wustl.edu	37	7	45124667	45124667	+	Missense_Mutation	SNP	G	G	A	rs561845508	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:45124667G>A	ENST00000490531.2	-	2	1131	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	371					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CATGCCCTCCGTGATGGACAG	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20820	0.0		0.0	False		,,,				2504	0.0																0													33.0	33.0	33.0					7																	45124667		692	1590	2282	SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1112C>T	7.37:g.45124667G>A	ENSP00000420477:p.Thr371Met			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.T371M	ENST00000490531.2	37	c.1112	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219187	0.58560	.	.	ENSG00000136274	ENST00000490531	T	0.14266	2.52	4.17	-1.79	0.07932	.	0.693619	0.11745	U	0.533628	T	0.11067	0.0270	N	0.19112	0.55	0.24031	N	0.996118	D	0.60575	0.988	P	0.51999	0.687	T	0.19031	-1.0318	10	0.66056	D	0.02	-7.554	3.8755	0.09054	0.4895:0.0:0.2312:0.2792	.	371	O15069	NACAD_HUMAN	M	371	ENSP00000420477:T371M	ENSP00000420477:T371M	T	-	2	0	NACAD	45091192	0.814000	0.29104	0.965000	0.40720	0.952000	0.60782	1.169000	0.31871	-0.115000	0.11915	0.462000	0.41574	ACG	NACAD	-	NULL		0.627	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	G	NM_001146334		45124667	-1	no_errors	ENST00000490531	ensembl	human	known	70_37	missense	SNP	0.980	A
NBEA	26960	genome.wustl.edu	37	13	35622736	35622736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:35622736C>T	ENST00000400445.3	+	5	1294	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q254*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q254*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q254*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	254					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGGCCTTATCAGAATGGCTT	0.343																																																	0													80.0	73.0	75.0					13																	35622736		1859	4084	5943	SO:0001587	stop_gained	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.760C>T	13.37:g.35622736C>T	ENSP00000383295:p.Gln254*		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q254*	ENST00000400445.3	37	c.760	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	43	10.149020	0.99348	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.68	5.68	0.88126	.	0.066155	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7731	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000308534:Q254X	Q	+	1	0	NBEA	34520736	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.773000	0.85462	2.669000	0.90835	0.484000	0.47621	CAG	NBEA	-	superfamily_ConA-like_lec_gl_sf		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35622736	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	35751232	35751232	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:35751232C>T	ENST00000400445.3	+	28	5188	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	NBEA_ENST00000379939.2_Missense_Mutation_p.R1549W|NBEA_ENST00000310336.4_Missense_Mutation_p.R1552W|NBEA_ENST00000540320.1_Missense_Mutation_p.R1552W	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1552					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTGTCTTTCGGGATGTGGT	0.393																																																	0													146.0	128.0	134.0					13																	35751232		1875	4107	5982	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4654C>T	13.37:g.35751232C>T	ENSP00000383295:p.Arg1552Trp		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1552W	ENST00000400445.3	37	c.4654	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721708	0.68959	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.17	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.965;0.991	D	0.83633	0.0146	10	0.87932	D	0	.	14.5739	0.68232	0.2662:0.7338:0.0:0.0	.	1552;1549	Q8NFP9;Q5T321	NBEA_HUMAN;.	W	1552;1552;1549;1552;211	ENSP00000440951:R1552W;ENSP00000383295:R1552W;ENSP00000369271:R1549W;ENSP00000308534:R1552W	ENSP00000308534:R1552W	R	+	1	2	NBEA	34649232	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.839000	0.62810	1.606000	0.50161	-0.182000	0.12963	CGG	NBEA	-	NULL		0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35751232	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204013810	204013810	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:204013810C>G	ENST00000449802.1	+	33	5647	c.5314C>G	c.(5314-5316)Ctt>Gtt	p.L1772V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1772										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTAGCCACTCTTAGACGCTG	0.388																																																	0													83.0	77.0	79.0					2																	204013810		1850	4083	5933	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5314C>G	2.37:g.204013810C>G	ENSP00000399903:p.Leu1772Val		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1772V	ENST00000449802.1	37	c.5314	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856111	0.32791	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55760	0.5	5.96	-0.837	0.10766	.	0.068538	0.64402	D	0.000016	T	0.43853	0.1266	M	0.75264	2.295	0.37598	D	0.920456	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.28396	-1.0045	10	0.18710	T	0.47	.	7.0856	0.25255	0.0:0.482:0.2022:0.3157	.	1772;1761	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	1772	ENSP00000399903:L1772V	ENSP00000344985:L1772V	L	+	1	0	NBEAL1	203722055	0.917000	0.31117	0.254000	0.24359	0.939000	0.58152	1.186000	0.32078	-0.078000	0.12730	-0.792000	0.03331	CTT	NBEAL1	-	NULL		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204013810	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.873	G
NDUFS1	4719	genome.wustl.edu	37	2	207017199	207017199	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:207017199C>T	ENST00000233190.6	-	3	363	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E33K|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E33K|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E47K|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000432169.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	33	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAAATACTTCAATCAAGTTG	0.393																																																	0													131.0	110.0	117.0					2																	207017199		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.97G>A	2.37:g.207017199C>T	ENSP00000233190:p.Glu33Lys		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu	p.E47K	ENST00000233190.6	37	c.139	CCDS2366.1	2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468683	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	T;D;T;T;T	0.90133	-1.02;-2.62;-1.02;-1.02;-1.02	5.9	5.9	0.94986	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	L	0.33668	1.02	0.80722	D	1	D;D;D	0.69078	0.96;0.997;0.997	P;D;D	0.69479	0.847;0.964;0.964	D	0.86658	0.1902	10	0.07813	T	0.8	0.0112	20.2723	0.98479	0.0:1.0:0.0:0.0	.	33;47;33	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	K	33;33;47;33;33	ENSP00000233190:E33K;ENSP00000409766:E33K;ENSP00000392709:E47K;ENSP00000399912:E33K;ENSP00000389413:E33K	ENSP00000233190:E33K	E	-	1	0	NDUFS1	206725444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	2.793000	0.96121	0.563000	0.77884	GAA	NDUFS1	-	superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS1	HGNC	protein_coding	OTTHUMT00000256391.4	C	NM_005006		207017199	-1	no_errors	ENST00000455934	ensembl	human	known	70_37	missense	SNP	1.000	T
NEK4	6787	genome.wustl.edu	37	3	52799977	52799977	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:52799977C>T	ENST00000233027.5	-	4	794	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	NEK4_ENST00000535191.1_Missense_Mutation_p.E109K|NEK4_ENST00000383721.4_Missense_Mutation_p.E198K	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GTGGCCATTTCATAGACACAG	0.313																																																	0													90.0	90.0	90.0					3																	52799977		2203	4299	6502	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.592G>A	3.37:g.52799977C>T	ENSP00000233027:p.Glu198Lys		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E198K	ENST00000233027.5	37	c.592	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.646448	0.96704	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.36878	1.23;1.24;1.23;1.24	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75153	-0.3418	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	109;198;198	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	K	198;109;198;109	ENSP00000233027:E198K;ENSP00000437703:E109K;ENSP00000373227:E198K;ENSP00000419666:E109K	ENSP00000233027:E198K	E	-	1	0	NEK4	52775017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GAA	NEK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.313	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	C	NM_003157		52799977	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	T
NKX2-2	4821	genome.wustl.edu	37	20	21492756	21492756	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:21492756G>C	ENST00000377142.4	-	2	983	c.627C>G	c.(625-627)gtC>gtG	p.V209V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	209					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCGTCCCTGACCAAGACGG	0.672																																																	0													33.0	36.0	35.0					20																	21492756		2203	4300	6503	SO:0001819	synonymous_variant	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.627C>G	20.37:g.21492756G>C				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.V209	ENST00000377142.4	37	c.627	CCDS13145.1	20																																																																																			NKX2-2	-	NULL		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	G			21492756	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	silent	SNP	1.000	C
NLRC3	197358	genome.wustl.edu	37	16	3598136	3598136	+	RNA	SNP	C	C	T	rs534344755	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:3598136C>T	ENST00000301749.7	-	0	3175				NLRC3_ENST00000448023.2_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAACTTACTCTAAGCTGGTG	0.617																																																	0													28.0	31.0	30.0					16																	3598136		1933	4117	6050			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3598136C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.D970N	ENST00000301749.7	37	c.2908		16	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511236	0.44660	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.65178	-0.14;-0.14;-0.14	4.84	1.4	0.22301	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.28400	0.85	0.22240	N	0.999262	P	0.47106	0.89	D	0.65323	0.934	T	0.49312	-0.8953	10	0.27082	T	0.32	.	7.008	0.24848	0.3524:0.4763:0.1713:0.0	.	970	C9JLH9	.	N	924;895;970	ENSP00000301749:D924N;ENSP00000352039:D895N;ENSP00000414415:D970N	ENSP00000301749:D924N	D	-	1	0	NLRC3	3538137	0.964000	0.33143	0.841000	0.33234	0.318000	0.28184	2.141000	0.42168	0.519000	0.28406	0.557000	0.71058	GAT	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.617	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3598136	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	0.904	T
NLRP8	126205	genome.wustl.edu	37	19	56487502	56487502	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:56487502G>A	ENST00000291971.3	+	8	2780	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	NLRP8_ENST00000590542.1_Silent_p.L884L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	903					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L903L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTGCAGACTGAGAAAGTGTG	0.358																																																	1	Substitution - coding silent(1)	lung(1)											90.0	84.0	86.0					19																	56487502		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2709G>A	19.37:g.56487502G>A			Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L903	ENST00000291971.3	37	c.2709	CCDS12937.1	19																																																																																			NLRP8	-	NULL		0.358	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	G	NM_176811		56487502	+1	no_errors	ENST00000291971	ensembl	human	known	70_37	silent	SNP	0.000	A
NOMO2	283820	genome.wustl.edu	37	16	18532165	18532165	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:18532165C>T	ENST00000381474.3	-	19	2260	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	NOMO2_ENST00000330537.6_Missense_Mutation_p.R732K|NOMO2_ENST00000543392.1_Missense_Mutation_p.R565K	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	732						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTTGGTCATTCTTTCTTCACC	0.557																																																	0													284.0	288.0	287.0					16																	18532165		2196	4298	6494	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2195G>A	16.37:g.18532165C>T	ENSP00000370883:p.Arg732Lys		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.R732K	ENST00000381474.3	37	c.2195	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.538647	0.00143	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.03772	3.84;3.82;3.81	2.81	1.85	0.25348	.	0.333001	0.31747	N	0.007140	T	0.01661	0.0053	N	0.03608	-0.345	0.09310	N	1	B;B	0.17465	0.008;0.022	B;B	0.14578	0.011;0.01	T	0.48175	-0.9058	10	0.05833	T	0.94	-6.4678	5.802	0.18420	0.0:0.8478:0.0:0.1522	.	565;732	Q4G177;Q5JPE7	.;NOMO2_HUMAN	K	732;732;565	ENSP00000331851:R732K;ENSP00000370883:R732K;ENSP00000439970:R565K	ENSP00000331851:R732K	R	-	2	0	NOMO2	18439666	0.469000	0.25846	0.002000	0.10522	0.027000	0.11550	2.216000	0.42871	0.724000	0.32296	0.455000	0.32223	AGA	NOMO2	-	NULL		0.557	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060		18532165	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	missense	SNP	0.033	T
NOMO2	283820	genome.wustl.edu	37	16	18532172	18532172	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:18532172C>T	ENST00000381474.3	-	19	2253	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	NOMO2_ENST00000330537.6_Missense_Mutation_p.E730K|NOMO2_ENST00000543392.1_Missense_Mutation_p.E563K	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	730						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ATTCTTTCTTCACCTTCCTCA	0.562																																																	0													284.0	288.0	287.0					16																	18532172		2196	4298	6494	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2188G>A	16.37:g.18532172C>T	ENSP00000370883:p.Glu730Lys		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.E730K	ENST00000381474.3	37	c.2188	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	8.752	0.921426	0.17982	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.03951	3.77;3.75;3.75	3.37	3.37	0.38596	.	0.150564	0.43260	D	0.000582	T	0.02970	0.0088	N	0.14661	0.345	0.36605	D	0.874887	B;B	0.23650	0.089;0.039	B;B	0.21917	0.037;0.014	T	0.27571	-1.0070	10	0.05959	T	0.93	-1.6593	14.2293	0.65879	0.0:1.0:0.0:0.0	.	563;730	Q4G177;Q5JPE7	.;NOMO2_HUMAN	K	730;730;563	ENSP00000331851:E730K;ENSP00000370883:E730K;ENSP00000439970:E563K	ENSP00000331851:E730K	E	-	1	0	NOMO2	18439673	0.100000	0.21855	0.002000	0.10522	0.008000	0.06430	3.305000	0.51873	1.845000	0.53610	0.455000	0.32223	GAA	NOMO2	-	NULL		0.562	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	C	NM_001004060		18532172	-1	no_errors	ENST00000381474	ensembl	human	known	70_37	missense	SNP	0.751	T
NR3C1	2908	genome.wustl.edu	37	5	142779831	142779831	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:142779831C>G	ENST00000343796.2	-	2	1567	c.574G>C	c.(574-576)Gac>Cac	p.D192H	NR3C1_ENST00000504572.1_Missense_Mutation_p.D192H|NR3C1_ENST00000231509.3_Missense_Mutation_p.D192H|NR3C1_ENST00000503201.1_Missense_Mutation_p.D192H|NR3C1_ENST00000415690.2_Missense_Mutation_p.D192H|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.D192H|NR3C1_ENST00000394464.2_Missense_Mutation_p.D192H|NR3C1_ENST00000424646.2_Missense_Mutation_p.D192H	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	192	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TGCAAAATGTCAAAGGTGCTT	0.443																																																	0													73.0	74.0	74.0					5																	142779831		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.574G>C	5.37:g.142779831C>G	ENSP00000343205:p.Asp192His		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.D192H	ENST00000343796.2	37	c.574	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200746	0.79015	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.54	5.54	0.83059	.	0.365080	0.28307	N	0.015839	T	0.77343	0.4116	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80621	-0.1301	10	0.87932	D	0	.	19.4783	0.94998	0.0:1.0:0.0:0.0	.	192;192;192	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	H	192	ENSP00000377977:D192H;ENSP00000343205:D192H;ENSP00000387672:D192H;ENSP00000405282:D192H;ENSP00000422518:D192H;ENSP00000377979:D192H;ENSP00000231509:D192H;ENSP00000427672:D192H	ENSP00000231509:D192H	D	-	1	0	NR3C1	142760024	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.099000	0.64554	2.601000	0.87937	0.655000	0.94253	GAC	NR3C1	-	pfam_Glcrtcd_rcpt		0.443	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	C			142779831	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	G
NT5C	30833	genome.wustl.edu	37	17	73126733	73126733	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73126733C>T	ENST00000245552.2	-	5	543	c.456G>A	c.(454-456)caG>caA	p.Q152Q	NT5C_ENST00000579082.1_5'Flank|NT5C_ENST00000582170.1_Splice_Site|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582160.1_Silent_p.Q66Q	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	152					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	GGGTCTCCTCCTGGCCTAGGA	0.607											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	62.0	63.0					17																	73126733		2203	4300	6503	SO:0001819	synonymous_variant	30833			AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.456G>A	17.37:g.73126733C>T		1142	Q96HS6|Q9NP82	Splice_Site	SNP	-	e5-1	ENST00000245552.2	37	c.452-1	CCDS11715.1	17																																																																																			NT5C	-	-		0.607	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C	HGNC	protein_coding	OTTHUMT00000445853.1	C			73126733	-1	no_errors	ENST00000582170	ensembl	human	putative	70_37	splice_site	SNP	0.006	T
NUP85	79902	genome.wustl.edu	37	17	73201869	73201869	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73201869G>A	ENST00000245544.4	+	1	84	c.13G>A	c.(13-15)Gat>Aat	p.D5N	NUP85_ENST00000579298.1_Missense_Mutation_p.D5N|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_De_novo_Start_OutOfFrame|NUP85_ENST00000541827.1_De_novo_Start_OutOfFrame|NUP85_ENST00000447371.2_De_novo_Start_InFrame	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	5					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GGAGGAGCTCGATGGCGAGCC	0.597																																																	0													94.0	78.0	83.0					17																	73201869		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.13G>A	17.37:g.73201869G>A	ENSP00000245544:p.Asp5Asn		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.D5N	ENST00000245544.4	37	c.13	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.214713	0.95104	.	.	ENSG00000125450	ENST00000245544	.	.	.	5.37	5.37	0.77165	.	0.041572	0.85682	D	0.000000	T	0.77011	0.4068	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77832	-0.2441	9	0.59425	D	0.04	-25.7305	16.396	0.83605	0.0:0.0:1.0:0.0	.	5	Q9BW27	NUP85_HUMAN	N	5	.	ENSP00000245544:D5N	D	+	1	0	NUP85	70713464	1.000000	0.71417	0.737000	0.30932	0.460000	0.32559	6.103000	0.71492	2.667000	0.90743	0.563000	0.77884	GAT	NUP85	-	NULL		0.597	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	G	NM_024844		73201869	+1	no_errors	ENST00000245544	ensembl	human	known	70_37	missense	SNP	0.997	A
OAZ1	4946	genome.wustl.edu	37	19	2271912	2271912	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:2271912C>G	ENST00000602676.2	+	4	502	c.423C>G	c.(421-423)atC>atG	p.I141M	JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000583542.4_Missense_Mutation_p.I141M|OAZ1_ENST00000322297.4_Missense_Mutation_p.I140M|OAZ1_ENST00000588673.2_Missense_Mutation_p.I170M|OAZ1_ENST00000582888.4_Missense_Mutation_p.I139M			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	141					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GCCTCTACATCGAGATCCCGG	0.642																																																	0													22.0	26.0	24.0					19																	2271912		2036	4192	6228	SO:0001583	missense	4946				CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.423C>G	19.37:g.2271912C>G	ENSP00000473381:p.Ile141Met		O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.I140M	ENST00000602676.2	37	c.420	CCDS58639.1	19	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336462	0.60963	.	.	ENSG00000104904	ENST00000322297	T	0.51574	0.7	4.53	1.15	0.20763	Acyl-CoA N-acyltransferase (1);	0.229367	0.44097	D	0.000492	T	0.62938	0.2469	M	0.71581	2.175	0.43942	D	0.996604	B	0.33413	0.411	D	0.63488	0.915	T	0.64149	-0.6475	10	0.87932	D	0	.	3.2983	0.06974	0.1875:0.4743:0.0:0.3382	.	141	P54368	OAZ1_HUMAN	M	140	ENSP00000314813:I140M	ENSP00000314813:I140M	I	+	3	3	OAZ1	2222912	0.000000	0.05858	1.000000	0.80357	0.692000	0.40212	-3.857000	0.00349	0.874000	0.35823	0.561000	0.74099	ATC	OAZ1	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.642	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ1	HGNC	protein_coding	OTTHUMT00000467467.2	C	NM_004152		2271912	+1	no_errors	ENST00000322297	ensembl	human	known	70_37	missense	SNP	0.978	G
OGFOD1	55239	genome.wustl.edu	37	16	56500113	56500113	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:56500113C>T	ENST00000566157.1	+	5	621	c.498C>T	c.(496-498)ttC>ttT	p.F166F	OGFOD1_ENST00000568397.1_Silent_p.F166F	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	166	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GGATTGCCTTCATCCTGTACC	0.517																																																	0													178.0	129.0	146.0					16																	56500113		2198	4300	6498	SO:0001819	synonymous_variant	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.498C>T	16.37:g.56500113C>T			H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Silent	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.F166	ENST00000566157.1	37	c.498	CCDS10761.2	16																																																																																			OGFOD1	-	smart_Pro_4_hyd_alph		0.517	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	C	NM_018233		56500113	+1	no_errors	ENST00000566157	ensembl	human	known	70_37	silent	SNP	1.000	T
OGT	8473	genome.wustl.edu	37	X	70787861	70787861	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:70787861G>C	ENST00000373719.3	+	21	3078	c.2861G>C	c.(2860-2862)cGa>cCa	p.R954P	OGT_ENST00000373701.3_Missense_Mutation_p.R944P	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	954					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGCTTCTCGAGTTGCAGCA	0.403																																																	0													229.0	188.0	202.0					X																	70787861		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2861G>C	X.37:g.70787861G>C	ENSP00000362824:p.Arg954Pro		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R954P	ENST00000373719.3	37	c.2861	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587188	0.86851	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	D;D	0.82711	-1.64;-1.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79784	0.958;0.923;0.993	D	0.96290	0.9213	10	0.87932	D	0	-5.0859	17.3502	0.87321	0.0:0.0:1.0:0.0	.	828;944;954	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	P	954;944	ENSP00000362824:R954P;ENSP00000362805:R944P	ENSP00000362805:R944P	R	+	2	0	OGT	70704586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.621000	0.98376	2.279000	0.76181	0.544000	0.68410	CGA	OGT	-	NULL		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672		70787861	+1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C
OPN1SW	611	genome.wustl.edu	37	7	128415649	128415649	+	Missense_Mutation	SNP	G	G	A	rs373496991		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:128415649G>A	ENST00000249389.2	-	1	195	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	66					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGGCTGCCGCAACTTTTTG	0.547																																																	0								G	TRP/ARG	0,4406		0,0,2203	108.0	115.0	113.0		196	2.5	1.0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OPN1SW	NM_001708.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/349	128415649	1,13005	2203	4300	6503	SO:0001583	missense	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.196C>T	7.37:g.128415649G>A	ENSP00000249389:p.Arg66Trp		Q13877	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.R66W	ENST00000249389.2	37	c.196	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519150	0.44866	0.0	1.16E-4	ENSG00000128617	ENST00000249389	T	0.45276	0.9	5.35	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.059479	0.64402	N	0.000005	T	0.64494	0.2603	M	0.90814	3.15	0.53688	D	0.999971	D	0.89917	1.0	D	0.76575	0.988	T	0.63287	-0.6671	10	0.87932	D	0	.	5.8494	0.18683	0.1735:0.0:0.6741:0.1524	.	66	P03999	OPSB_HUMAN	W	66	ENSP00000249389:R66W	ENSP00000249389:R66W	R	-	1	2	OPN1SW	128202885	1.000000	0.71417	0.998000	0.56505	0.221000	0.24807	1.513000	0.35823	0.344000	0.23847	-0.140000	0.14226	CGG	OPN1SW	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	G	NM_001708		128415649	-1	no_errors	ENST00000249389	ensembl	human	known	70_37	missense	SNP	1.000	A
OR1J2	26740	genome.wustl.edu	37	9	125273356	125273356	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:125273356C>G	ENST00000335302.5	+	1	276	c.276C>G	c.(274-276)atC>atG	p.I92M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAATCGATCCTCTATGAGG	0.408																																																	1	Substitution - coding silent(1)	large_intestine(1)											159.0	135.0	143.0					9																	125273356		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.276C>G	9.37:g.125273356C>G	ENSP00000335575:p.Ile92Met		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I92M	ENST00000335302.5	37	c.276	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413601	0.25465	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.06768	3.26	5.02	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001168	T	0.15046	0.0363	M	0.88979	2.995	0.09310	N	0.999999	B	0.29432	0.244	B	0.42030	0.373	T	0.36212	-0.9757	10	0.87932	D	0	.	0.6142	0.00766	0.3194:0.2792:0.1094:0.292	.	92	Q8NGS2	OR1J2_HUMAN	M	92	ENSP00000335575:I92M	ENSP00000335575:I92M	I	+	3	3	OR1J2	124313177	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.148000	0.00583	-0.166000	0.10890	-0.158000	0.13435	ATC	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.408	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	C			125273356	+1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.001	G
OR4N4	283694	genome.wustl.edu	37	15	22383199	22383199	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:22383199C>T	ENST00000328795.4	+	1	818	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGCACCACTCGTGTCATTAT	0.488																																																	0													230.0	197.0	208.0					15																	22383199		2193	4262	6455	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.727C>T	15.37:g.22383199C>T	ENSP00000332500:p.Arg243Cys		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R243C	ENST00000328795.4	37	c.727	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924821	0.34002	.	.	ENSG00000183706	ENST00000328795	T	0.00115	8.71	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	T	0.00178	0.0005	N	0.19112	0.55	0.09310	N	0.999994	P	0.45986	0.87	P	0.51453	0.67	T	0.61530	-0.7044	10	0.87932	D	0	-2.4162	12.5975	0.56478	0.0:1.0:0.0:0.0	.	243	Q8N0Y3	OR4N4_HUMAN	C	243	ENSP00000332500:R243C	ENSP00000332500:R243C	R	+	1	0	OR4N4	19884563	0.997000	0.39634	0.369000	0.25952	0.005000	0.04900	4.185000	0.58330	1.870000	0.54199	0.404000	0.27445	CGT	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	C			22383199	+1	no_errors	ENST00000328795	ensembl	human	known	70_37	missense	SNP	0.206	T
P2RX2	22953	genome.wustl.edu	37	12	133196044	133196044	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:133196044A>T	ENST00000389110.3	+	2	230	c.193A>T	c.(193-195)Aaa>Taa	p.K65*	P2RX2_ENST00000449132.2_Nonsense_Mutation_p.K65*|P2RX2_ENST00000352418.4_Missense_Mutation_p.E42V|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.K65*|P2RX2_ENST00000350048.5_Nonsense_Mutation_p.K65*|P2RX2_ENST00000348800.5_Nonsense_Mutation_p.K65*	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	65					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CATCGTGCAGAAAAGCTACCA	0.667																																																	0													81.0	80.0	80.0					12																	133196044		2203	4300	6503	SO:0001587	stop_gained	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.193A>T	12.37:g.133196044A>T	ENSP00000373762:p.Lys65*		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Nonsense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.K65*	ENST00000389110.3	37	c.193	CCDS31931.1	12	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	A|A|A|A	36|36|36|36	5.851334|5.851334|5.851334|5.851334	0.97023|0.97023|0.97023|0.97023	.|.|.|.	.|.|.|.	ENSG00000187848|ENSG00000187848|ENSG00000187848|ENSG00000187848	ENST00000352418|ENST00000389110;ENST00000449132;ENST00000343948;ENST00000350048;ENST00000348800|ENST00000542301;ENST00000535910|ENST00000536121	T|.|.|.	0.06218|.|.|.	3.33|.|.|.	4.44|4.44|4.44|4.44	4.44|4.44|4.44|4.44	0.53790|0.53790|0.53790|0.53790	.|.|.|.	.|0.000000|.|.	.|0.85682|.|.	.|D|.|.	.|0.000000|.|.	T|.|T|.	0.62913|.|0.62913|.	0.2467|.|0.2467|.	.|.|.|.	.|.|.|.	.|.|.|.	0.80722|0.80722|0.80722|0.80722	A|A|A|A	1|1|1|1	B|.|.|.	0.02656|.|.|.	0.0|.|.|.	B|.|.|.	0.01281|.|.|.	0.0|.|.|.	T|.|T|.	0.70428|.|0.70428|.	-0.4874|.|-0.4874|.	7|.|3|.	0.27785|0.02654|.|.	T|T|.|.	0.31|1|.|.	-17.8881|-17.8881|-17.8881|-17.8881	13.3464|13.3464|13.3464|13.3464	0.60575|0.60575|0.60575|0.60575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.|.	42|.|.|.	Q9UBL9-6|.|.|.	.|.|.|.	V|X|S|C	42|65|75;20|50	ENSP00000341419:E42V|.|.|.	ENSP00000341419:E42V|ENSP00000343339:K65X|.|.	E|K|R|X	+|+|+|+	2|1|3|3	0|0|2|0	P2RX2|P2RX2|P2RX2|P2RX2	131706117|131706117|131706117|131706117	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.894000|0.894000|0.894000|0.894000	0.52154|0.52154|0.52154|0.52154	8.307000|8.307000|8.307000|8.307000	0.89964|0.89964|0.89964|0.89964	1.631000|1.631000|1.631000|1.631000	0.50456|0.50456|0.50456|0.50456	0.413000|0.413000|0.413000|0.413000	0.27773|0.27773|0.27773|0.27773	GAA|AAA|AGA|TGA	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.667	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	A			133196044	+1	no_errors	ENST00000343948	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PAK4	10298	genome.wustl.edu	37	19	39663791	39663791	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39663791C>T	ENST00000593690.1	+	5	865	c.438C>T	c.(436-438)ggC>ggT	p.G146G	PAK4_ENST00000321944.4_Intron|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000358301.3_Silent_p.G146G|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Silent_p.G146G|PAK4_ENST00000360442.3_Silent_p.G146G	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	146	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGGCGGGTGGCGGCAGTGGTG	0.716																																																	0													3.0	4.0	3.0					19																	39663791		1774	3612	5386	SO:0001819	synonymous_variant	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.438C>T	19.37:g.39663791C>T			B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.G146	ENST00000593690.1	37	c.438	CCDS12528.1	19																																																																																			PAK4	-	NULL		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39663791	+1	no_errors	ENST00000358301	ensembl	human	known	70_37	silent	SNP	0.021	T
PARP14	54625	genome.wustl.edu	37	3	122418794	122418794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:122418794C>T	ENST00000474629.2	+	6	1659	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403																																																	0													76.0	71.0	72.0					3																	122418794		1833	4079	5912	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1393C>T	3.37:g.122418794C>T	ENSP00000418194:p.Gln465*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q465*	ENST00000474629.2	37	c.1393	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728973	0.48833	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	.	.	.	5.32	-0.0775	0.13718	.	0.205962	0.35320	N	0.003296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.9889	0.58608	0.1197:0.416:0.4643:0.0	.	.	.	.	X	465;384	.	ENSP00000381228:Q384X	Q	+	1	0	PARP14	123901484	0.711000	0.27906	0.776000	0.31678	0.174000	0.22865	1.027000	0.30115	0.064000	0.16427	-0.150000	0.13652	CAA	PARP14	-	NULL		0.403	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122418794	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	0.108	T
PCDHA3	56145	genome.wustl.edu	37	5	140183169	140183169	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:140183169C>T	ENST00000522353.2	+	1	2387	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S796L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	796	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGATCTCTCAGCCAAAGTG	0.413																																																	0													70.0	81.0	77.0					5																	140183169		2203	4300	6503	SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2387C>T	5.37:g.140183169C>T	ENSP00000429808:p.Ser796Leu		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S796L	ENST00000522353.2	37	c.2387	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	10.20	1.285224	0.23478	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.11385	2.78;2.78	4.16	4.16	0.48862	.	0.000000	0.39687	U	0.001291	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.002	T	0.36040	-0.9764	10	0.23302	T	0.38	.	12.2158	0.54406	0.0:0.8264:0.1736:0.0	.	796;796	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	796	ENSP00000429808:S796L;ENSP00000434086:S796L	ENSP00000429808:S796L	S	+	2	0	PCDHA3	140163353	0.015000	0.18098	0.040000	0.18447	0.150000	0.21749	1.178000	0.31981	2.039000	0.60335	0.467000	0.42956	TCA	PCDHA3	-	NULL		0.413	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140183169	+1	no_errors	ENST00000522353	ensembl	human	known	70_37	missense	SNP	0.033	T
PCF11	51585	genome.wustl.edu	37	11	82877695	82877695	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:82877695G>A	ENST00000298281.4	+	5	2208	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	586					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAGAATGTAGAAAACTGGCA	0.393																																																	0													67.0	67.0	67.0					11																	82877695		1810	4032	5842	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1756G>A	11.37:g.82877695G>A	ENSP00000298281:p.Glu586Lys		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.E586K	ENST00000298281.4	37	c.1756	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678085	0.88542	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.50277	1.74;0.77;0.75	6.07	6.07	0.98685	.	0.095438	0.46145	D	0.000315	T	0.54481	0.1861	L	0.29908	0.895	0.51767	D	0.999931	D;P	0.67145	0.996;0.457	P;B	0.57620	0.824;0.129	T	0.41945	-0.9480	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	586;586	E9PQ01;O94913	.;PCF11_HUMAN	K	586	ENSP00000298281:E586K;ENSP00000434540:E586K;ENSP00000431567:E586K	.	E	+	1	0	PCF11	82555343	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	6.877000	0.75562	2.885000	0.99019	0.655000	0.94253	GAA	PCF11	-	NULL		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	G	NM_015885		82877695	+1	no_errors	ENST00000298281	ensembl	human	known	70_37	missense	SNP	1.000	A
PCIF1	63935	genome.wustl.edu	37	20	44571761	44571761	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:44571761C>G	ENST00000372409.3	+	8	1063	c.699C>G	c.(697-699)ttC>ttG	p.F233L		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	233					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGGAGTCTTTCAACCGCTGGA	0.542																																																	0													59.0	49.0	53.0					20																	44571761		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.699C>G	20.37:g.44571761C>G	ENSP00000361486:p.Phe233Leu		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.F233L	ENST00000372409.3	37	c.699	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695548	0.68386	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.80422	2.495	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.72343	-0.4322	9	0.54805	T	0.06	-27.596	4.6478	0.12580	0.0:0.7415:0.0:0.2585	.	233	Q9H4Z3	PCIF1_HUMAN	L	233	.	ENSP00000361486:F233L	F	+	3	2	PCIF1	44005168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.387000	0.44389	2.606000	0.88127	0.655000	0.94253	TTC	PCIF1	-	NULL		0.542	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	C	NM_022104		44571761	+1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	G
PCYOX1L	78991	genome.wustl.edu	37	5	148746985	148746985	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:148746985G>T	ENST00000274569.4	+	5	807	c.745G>T	c.(745-747)Gtt>Ttt	p.V249F	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.V159F	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	249					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGCTGGTTTGTTCCGG	0.582											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												0													173.0	138.0	150.0					5																	148746985		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.745G>T	5.37:g.148746985G>T	ENSP00000274569:p.Val249Phe	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.V249F	ENST00000274569.4	37	c.745	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.224193	0.95139	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.19394	2.91;2.15	5.67	5.67	0.87782	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.995	T	0.50021	-0.8876	10	0.40728	T	0.16	-19.1489	19.7824	0.96422	0.0:0.0:1.0:0.0	.	131;159;249	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	F	249;159	ENSP00000274569:V249F;ENSP00000428512:V159F	ENSP00000274569:V249F	V	+	1	0	PCYOX1L	148727178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	2.677000	0.91161	0.561000	0.74099	GTT	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.582	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	G	NM_024028		148746985	+1	no_errors	ENST00000274569	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE4B	5142	genome.wustl.edu	37	1	66723177	66723177	+	Intron	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:66723177C>T	ENST00000329654.4	+	5	663				PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Intron	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AATACCCTTTCGTGCCAAATT	0.318																																																	0													155.0	159.0	158.0					1																	66723177		876	1990	2866	SO:0001627	intron_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.477-153C>T	1.37:g.66723177C>T			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	RNA	SNP	-	NULL	ENST00000329654.4	37	NULL	CCDS632.1	1																																																																																			PDE4B	-	-		0.318	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	C	NM_002600		66723177	+1	no_errors	ENST00000371048	ensembl	human	known	70_37	rna	SNP	0.000	T
PDP1	54704	genome.wustl.edu	37	8	94935385	94935385	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:94935385G>C	ENST00000297598.4	+	2	1367	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	PDP1_ENST00000517764.1_Missense_Mutation_p.K366N|PDP1_ENST00000520728.1_Missense_Mutation_p.K366N|PDP1_ENST00000396200.3_Missense_Mutation_p.K391N	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	366					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACCTTCAAAAGAGAGTGATAG	0.443																																																	0													101.0	102.0	101.0					8																	94935385		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1098G>C	8.37:g.94935385G>C	ENSP00000297598:p.Lys366Asn		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.K391N	ENST00000297598.4	37	c.1173	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	9.476	1.097002	0.20552	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.50001	0.77;0.77;0.76;0.77	6.16	4.14	0.48551	Protein phosphatase 2C-like (5);	0.045508	0.85682	D	0.000000	T	0.33235	0.0856	N	0.25992	0.78	0.51767	D	0.999936	B;B	0.19445	0.036;0.036	B;B	0.23018	0.043;0.043	T	0.11397	-1.0589	10	0.36615	T	0.2	-22.6705	9.3532	0.38151	0.2431:0.0:0.7569:0.0	.	417;366	B4DYX8;Q9P0J1	.;PDP1_HUMAN	N	366;366;391;366	ENSP00000297598:K366N;ENSP00000428317:K366N;ENSP00000379503:K391N;ENSP00000430380:K366N	ENSP00000297598:K366N	K	+	3	2	PDP1	95004561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.442000	0.44873	1.364000	0.46038	0.650000	0.86243	AAG	PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	G	NM_018444		94935385	+1	no_errors	ENST00000396200	ensembl	human	known	70_37	missense	SNP	1.000	C
PHF8	23133	genome.wustl.edu	37	X	54022194	54022194	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:54022194C>T	ENST00000357988.5	-	12	1721	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	PHF8_ENST00000338946.6_Missense_Mutation_p.E419K|PHF8_ENST00000338154.6_Missense_Mutation_p.E419K|PHF8_ENST00000322659.8_Missense_Mutation_p.E419K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	455					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCCGGGATCTCATCCTCATGG	0.493																																																	0													88.0	64.0	72.0					X																	54022194		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1363G>A	X.37:g.54022194C>T	ENSP00000350676:p.Glu455Lys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E455K	ENST00000357988.5	37	c.1363	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.211592|4.211592	0.79240|0.79240	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282;ENST00000448003	T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;P|.	0.40332|.	0.555;0.451;0.586;0.713|.	B;B;B;B|.	0.33620|.	0.167;0.049;0.106;0.131|.	T|T	0.55805|0.55805	-0.8083|-0.8083	10|5	0.37606|.	T|.	0.19|.	-24.8462|-24.8462	17.0602|17.0602	0.86546|0.86546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419;419;455;455|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	K|I	455;419;419;449;419|322;99	ENSP00000350676:E455K;ENSP00000338868:E419K;ENSP00000340051:E419K;ENSP00000319473:E419K|.	ENSP00000319473:E419K|.	E|M	-|-	1|3	0|0	PHF8|PHF8	54038919|54038919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.874000|6.874000	0.75546|0.75546	2.293000|2.293000	0.77203|0.77203	0.468000|0.468000	0.43344|0.43344	GAG|ATG	PHF8	-	NULL		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	C	NM_015107		54022194	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	T
PGK1	5230	genome.wustl.edu	37	X	77378713	77378713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:77378713G>T	ENST00000373316.4	+	8	945	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	PGK1_ENST00000537456.1_Nonsense_Mutation_p.E232*|PGK1_ENST00000442431.1_Nonsense_Mutation_p.E124*	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	260					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TCTGTTTGATGAAGAGGGAGC	0.448																																																	0													98.0	74.0	82.0					X																	77378713		2203	4300	6503	SO:0001587	stop_gained	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.778G>T	X.37:g.77378713G>T	ENSP00000362413:p.Glu260*		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Nonsense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.E260*	ENST00000373316.4	37	c.778	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.637856	0.98403	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.8321	16.6486	0.85183	0.0:0.0:1.0:0.0	.	.	.	.	X	260;124;85;232	.	ENSP00000362413:E260X	E	+	1	0	PGK1	77265369	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.208000	0.95075	2.221000	0.72209	0.594000	0.82650	GAA	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.448	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	G			77378713	+1	no_errors	ENST00000373316	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PIK3R3	8503	genome.wustl.edu	37	1	46546413	46546413	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:46546413G>C	ENST00000262741.5	-	2	805	c.116C>G	c.(115-117)cCa>cGa	p.P39R	PIK3R3_ENST00000420542.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.P85R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.P39R|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Missense_Mutation_p.P39R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	39	Pro-rich.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGGTGGCTTTGGTGGAAGAGC	0.398																																																	0													211.0	221.0	218.0					1																	46546413		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.116C>G	1.37:g.46546413G>C	ENSP00000262741:p.Pro39Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.P85R	ENST00000262741.5	37	c.254	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292346	0.80914	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	D;D;D;D;D;D;T	0.84146	-1.57;-1.57;-1.57;-1.73;-1.81;-1.73;0.84	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.76170	2.325	0.80722	D	1	D;P;D;P	0.89917	1.0;0.93;1.0;0.93	D;P;D;B	0.91635	0.999;0.564;0.977;0.36	D	0.92965	0.6392	10	0.87932	D	0	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	85;72;39;39	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	39;39;39;39;85;39;39	ENSP00000361075:P39R;ENSP00000262741:P39R;ENSP00000412546:P39R;ENSP00000346188:P39R;ENSP00000439913:P85R;ENSP00000391431:P39R;ENSP00000416647:P39R	ENSP00000262741:P39R	P	-	2	0	PIK3R3	46319000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.427000	0.97472	2.521000	0.84997	0.467000	0.42956	CCA	PIK3R3	-	NULL		0.398	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46546413	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	C
PKD1L3	342372	genome.wustl.edu	37	16	72017957	72017957	+	RNA	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:72017957G>A	ENST00000534738.1	-	0	943							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AGAAAATCTTGGGGTTAAGGC	0.473																																																	0													103.0	92.0	95.0					16																	72017957		692	1591	2283			342372			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72017957G>A				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-		0.473	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	G	NM_181536		72017957	-1	no_errors	ENST00000335106	ensembl	human	known	70_37	rna	SNP	0.001	A
PLA2G4F	255189	genome.wustl.edu	37	15	42446400	42446400	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:42446400G>A	ENST00000382396.4	-	4	426	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.L114F			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	114	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGTCATAGAGGGTGAGCTCC	0.597																																																	0													90.0	81.0	84.0					15																	42446400		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.340C>T	15.37:g.42446400G>A	ENSP00000371833:p.Leu114Phe		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L114F	ENST00000382396.4	37	c.340	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072720	0.55646	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.66995	-0.24;-0.24	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000024	D	0.84629	0.5514	M	0.89534	3.04	0.41745	D	0.989632	D	0.71674	0.998	D	0.71184	0.972	D	0.86881	0.2042	10	0.54805	T	0.06	-31.9377	17.0399	0.86486	0.0:0.0:1.0:0.0	.	114	Q68DD2	PA24F_HUMAN	F	110;114;114;114;114	ENSP00000380442:L114F;ENSP00000371833:L114F	ENSP00000290497:L110F	L	-	1	0	PLA2G4F	40233692	1.000000	0.71417	0.943000	0.38184	0.042000	0.13812	3.944000	0.56629	2.717000	0.92951	0.650000	0.86243	CTC	PLA2G4F	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	G	NM_213600		42446400	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.975	A
PLCB3	5331	genome.wustl.edu	37	11	64027557	64027557	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64027557G>C	ENST00000540288.1	+	14	1685	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	PLCB3_ENST00000279230.6_Missense_Mutation_p.E528Q|PLCB3_ENST00000325234.5_Missense_Mutation_p.E461Q	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	528					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGTAGGGCTTGAGAAGCCCAG	0.627																																																	0													44.0	45.0	45.0					11																	64027557		2201	4296	6497	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1582G>C	11.37:g.64027557G>C	ENSP00000443631:p.Glu528Gln		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E528Q	ENST00000540288.1	37	c.1582	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470698	0.26423	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.22336	2.1;2.1;1.96	4.93	4.93	0.64822	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	1.597730	0.03124	N	0.164210	T	0.41650	0.1168	L	0.47716	1.5	0.51012	D	0.9999	D;D	0.69078	0.997;0.985	D;P	0.63957	0.92;0.773	T	0.07770	-1.0755	10	0.20046	T	0.44	.	14.3607	0.66768	0.0:0.0:1.0:0.0	.	461;528	G5E960;Q01970	.;PLCB3_HUMAN	Q	528;528;461	ENSP00000279230:E528Q;ENSP00000443631:E528Q;ENSP00000324660:E461Q	ENSP00000279230:E528Q	E	+	1	0	PLCB3	63784133	0.996000	0.38824	0.960000	0.40013	0.060000	0.15804	3.059000	0.49947	2.679000	0.91253	0.561000	0.74099	GAG	PLCB3	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.627	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64027557	+1	no_errors	ENST00000279230	ensembl	human	known	70_37	missense	SNP	0.977	C
PLCB3	5331	genome.wustl.edu	37	11	64027604	64027604	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:64027604G>C	ENST00000540288.1	+	14	1732	c.1629G>C	c.(1627-1629)ctG>ctC	p.L543L	PLCB3_ENST00000279230.6_Silent_p.L543L|PLCB3_ENST00000325234.5_Silent_p.L476L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	543					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACGAGGGCCTGAACCGAGGCC	0.587																																																	0													74.0	69.0	71.0					11																	64027604		2200	4296	6496	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1629G>C	11.37:g.64027604G>C			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L543	ENST00000540288.1	37	c.1629	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.587	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64027604	+1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	0.000	C
PLEC	5339	genome.wustl.edu	37	8	144996801	144996801	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:144996801C>T	ENST00000322810.4	-	31	7876	c.7707G>A	c.(7705-7707)caG>caA	p.Q2569Q	PLEC_ENST00000527096.1_Silent_p.Q2455Q|PLEC_ENST00000345136.3_Silent_p.Q2432Q|PLEC_ENST00000354958.2_Silent_p.Q2410Q|PLEC_ENST00000356346.3_Silent_p.Q2418Q|PLEC_ENST00000357649.2_Silent_p.Q2436Q|PLEC_ENST00000354589.3_Silent_p.Q2432Q|PLEC_ENST00000398774.2_Silent_p.Q2400Q|PLEC_ENST00000436759.2_Silent_p.Q2459Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2569	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						TCTCCAGTGTCTGCACCAGGG	0.647																																																	0													44.0	48.0	46.0					8																	144996801		2180	4283	6463	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.7707G>A	8.37:g.144996801C>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.Q2569	ENST00000322810.4	37	c.7707	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996801	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.980	T
PLEKHO1	51177	genome.wustl.edu	37	1	150128266	150128266	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:150128266G>C	ENST00000369124.4	+	3	462	c.184G>C	c.(184-186)Gat>Cat	p.D62H	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.D62H	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	62	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTAGGTAAAAGATGAGAAAAA	0.438																																																	0																																										SO:0001583	missense	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.184G>C	1.37:g.150128266G>C	ENSP00000358120:p.Asp62His		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D62H	ENST00000369124.4	37	c.184	CCDS945.1	1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914566	0.72983	.	.	ENSG00000023902	ENST00000025469;ENST00000369124	T;T	0.17528	2.27;2.27	4.4	4.4	0.53042	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053893	0.64402	D	0.000001	T	0.23249	0.0562	M	0.72118	2.19	0.58432	D	0.999999	P	0.48694	0.914	P	0.51297	0.665	T	0.02797	-1.1109	10	0.72032	D	0.01	-15.3489	16.1611	0.81712	0.0:0.0:1.0:0.0	.	62	Q53GL0	PKHO1_HUMAN	H	62	ENSP00000025469:D62H;ENSP00000358120:D62H	ENSP00000025469:D62H	D	+	1	0	PLEKHO1	148394890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.975000	0.76128	2.276000	0.75962	0.609000	0.83330	GAT	PLEKHO1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	G	NM_016274		150128266	+1	no_errors	ENST00000369124	ensembl	human	known	70_37	missense	SNP	1.000	C
PLXNB1	5364	genome.wustl.edu	37	3	48461614	48461614	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:48461614G>C	ENST00000358536.4	-	11	2350	c.2081C>G	c.(2080-2082)cCa>cGa	p.P694R	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P694R|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000358459.4_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	694	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGTGGGTGGGGAGGGGCT	0.677																																																	0													4.0	4.0	4.0					3																	48461614		2069	4037	6106	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2081C>G	3.37:g.48461614G>C	ENSP00000351338:p.Pro694Arg		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P694R	ENST00000358536.4	37	c.2081	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542045	0.85917	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03553	3.89;3.89	3.95	3.95	0.45737	.	0.690854	0.13577	N	0.377642	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	10	0.45353	T	0.12	.	13.3133	0.60393	0.0:0.0:1.0:0.0	.	694	O43157	PLXB1_HUMAN	R	694	ENSP00000296440:P694R;ENSP00000351338:P694R	ENSP00000296440:P694R	P	-	2	0	PLXNB1	48436618	0.988000	0.35896	0.996000	0.52242	0.583000	0.36354	1.980000	0.40618	2.034000	0.60081	0.561000	0.74099	CCA	PLXNB1	-	NULL		0.677	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	G	NM_002673		48461614	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.976	C
PLXNB2	23654	genome.wustl.edu	37	22	50719908	50719908	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50719908C>T	ENST00000449103.1	-	22	3683	c.3543G>A	c.(3541-3543)gaG>gaA	p.E1181E	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.E1181E			O15031	PLXB2_HUMAN	plexin B2	1181					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCACCCACTCGCGAGAGC	0.692																																																	0													20.0	29.0	26.0					22																	50719908		2177	4257	6434	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3543G>A	22.37:g.50719908C>T			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1181	ENST00000449103.1	37	c.3543	CCDS43035.1	22																																																																																			PLXNB2	-	NULL		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719908	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	silent	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50719913	50719913	+	Missense_Mutation	SNP	G	G	A	rs372197536		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50719913G>A	ENST00000449103.1	-	22	3678	c.3538C>T	c.(3538-3540)Cgc>Tgc	p.R1180C	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1180C			O15031	PLXB2_HUMAN	plexin B2	1180					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCACTCGCGAGAGCCGAAC	0.682																																																	0								G	CYS/ARG	1,4315		0,1,2157	19.0	27.0	25.0		3538	4.2	0.1	22		25	0,8490		0,0,4245	no	missense	PLXNB2	NM_012401.3	180	0,1,6402	AA,AG,GG		0.0,0.0232,0.0078	benign	1180/1839	50719913	1,12805	2158	4245	6403	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3538C>T	22.37:g.50719913G>A	ENSP00000409171:p.Arg1180Cys		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1180C	ENST00000449103.1	37	c.3538	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123326	0.37436	2.32E-4	0.0	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03386	3.95;3.95	4.18	4.18	0.49190	.	0.000000	0.53938	D	0.000046	T	0.04815	0.0130	L	0.47716	1.5	0.28423	N	0.917617	B	0.25719	0.132	B	0.17433	0.018	T	0.11494	-1.0585	10	0.59425	D	0.04	.	12.6757	0.56893	0.0:0.0:0.8344:0.1656	.	1180	O15031	PLXB2_HUMAN	C	1180	ENSP00000409171:R1180C;ENSP00000352288:R1180C	ENSP00000352288:R1180C	R	-	1	0	PLXNB2	49062040	0.086000	0.21541	0.052000	0.19188	0.922000	0.55478	1.486000	0.35530	2.163000	0.67991	0.561000	0.74099	CGC	PLXNB2	-	NULL		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	G	NM_012401		50719913	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.213	A
PMFBP1	83449	genome.wustl.edu	37	16	72154011	72154011	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:72154011G>A	ENST00000355636.6	-	20	2984	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000537465.1_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAAGGACGGGTTGTGTTG	0.517																																																	0													205.0	226.0	219.0					16																	72154011		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000355636.6:c.2371C>T	16.37:g.72154011G>A	ENSP00000347854:p.Arg791Cys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.R791C	ENST00000355636.6	37	c.2371		16	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943300	0.53079	.	.	ENSG00000118557	ENST00000355636	T	0.15952	2.38	4.66	2.34	0.29019	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40664	-0.9551	6	.	.	.	.	6.9738	0.24664	0.8037:0.0:0.1963:0.0	.	.	.	.	C	791	ENSP00000347854:R791C	.	R	-	1	0	PMFBP1	70711512	0.017000	0.18338	0.001000	0.08648	0.036000	0.12997	0.455000	0.21843	0.358000	0.24211	-0.373000	0.07131	CGT	PMFBP1	-	NULL		0.517	PMFBP1-201	KNOWN	basic|appris_candidate	protein_coding	PMFBP1	HGNC	protein_coding		G	NM_031293		72154011	-1	no_errors	ENST00000355636	ensembl	human	known	70_37	missense	SNP	0.002	A
POM121L9P	29774	genome.wustl.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-		0.607	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	C	NM_014549		24659813	+1	no_errors	ENST00000414583	ensembl	human	known	70_37	rna	SNP	0.003	T
PPM1B	5495	genome.wustl.edu	37	2	44396075	44396075	+	5'UTR	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:44396075C>T	ENST00000282412.4	+	0	60				PPM1B_ENST00000345249.4_5'UTR|PPM1B_ENST00000378551.2_5'UTR|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_5'UTR|PPM1B_ENST00000409432.3_5'UTR|RP11-559M23.1_ENST00000609837.1_RNA	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGACGGCCTCGTTCCCCTAG	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.-353C>T	2.37:g.44396075C>T			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	RNA	SNP	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																			PPM1B	-	-		0.647	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	C	NM_002706		44396075	+1	no_errors	ENST00000378540	ensembl	human	known	70_37	rna	SNP	0.002	T
PPP1R3F	89801	genome.wustl.edu	37	X	49143300	49143300	+	Silent	SNP	C	C	G	rs138904738		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:49143300C>G	ENST00000055335.6	+	4	2164	c.2148C>G	c.(2146-2148)ctC>ctG	p.L716L	PPP1R3F_ENST00000376188.1_Silent_p.L370L|PPP1R3F_ENST00000495799.1_Silent_p.L370L|PPP1R3F_ENST00000438316.1_Silent_p.L387L|PPP1R3F_ENST00000466508.1_Silent_p.L370L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	716					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AAGTCTGTCTCTCTAGTGTAG	0.592																																																	0								C	,	0,3834		0,0,1632,570	57.0	40.0	46.0		1110,2148	-9.2	0.0	X	dbSNP_134	46	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	PPP1R3F	NM_001184745.1,NM_033215.4	,	0,1,4059,2442	GG,GC,CC,C		0.0149,0.0,0.0095	,	370/454,716/800	49143300	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2148C>G	X.37:g.49143300C>G			A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.L716	ENST00000055335.6	37	c.2148	CCDS35254.1	X																																																																																			PPP1R3F	-	NULL		0.592	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	C	NM_033215		49143300	+1	no_errors	ENST00000055335	ensembl	human	known	70_37	silent	SNP	0.000	G
PRCP	5547	genome.wustl.edu	37	11	82564297	82564297	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:82564297C>T	ENST00000313010.3	-	3	527	c.333G>A	c.(331-333)gaG>gaA	p.E111E	PRCP_ENST00000535099.1_Silent_p.E6E|PRCP_ENST00000393399.2_Silent_p.E132E	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	111					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTTTCAGTTCCTCAGCCACAT	0.383																																																	0													113.0	95.0	101.0					11																	82564297		2203	4300	6503	SO:0001819	synonymous_variant	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.333G>A	11.37:g.82564297C>T			A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	pfam_Peptidase_S28	p.E132	ENST00000313010.3	37	c.396	CCDS8262.1	11																																																																																			PRCP	-	pfam_Peptidase_S28		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	C	NM_005040		82564297	-1	no_errors	ENST00000393399	ensembl	human	known	70_37	silent	SNP	1.000	T
PRDM2	7799	genome.wustl.edu	37	1	14108373	14108373	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:14108373G>C	ENST00000235372.7	+	8	4939	c.4083G>C	c.(4081-4083)aaG>aaC	p.K1361N	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1361N|PRDM2_ENST00000343137.4_Missense_Mutation_p.K1160N|PRDM2_ENST00000413440.1_Missense_Mutation_p.K1160N|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1361	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAAGTGACAAGAAGAGGTACA	0.453																																																	0													96.0	95.0	95.0					1																	14108373		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4083G>C	1.37:g.14108373G>C	ENSP00000235372:p.Lys1361Asn		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.K1361N	ENST00000235372.7	37	c.4083	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556977	0.45590	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.03413	4.05;3.94;3.95;3.95	6.17	4.01	0.46588	.	0.047485	0.85682	D	0.000000	T	0.08891	0.0220	L	0.36672	1.1	0.42996	D	0.9945	D;D;D	0.89917	1.0;0.974;0.985	D;P;P	0.68765	0.96;0.707;0.847	T	0.08229	-1.0732	10	0.72032	D	0.01	.	7.7852	0.29087	0.2866:0.0:0.7134:0.0	.	1219;1361;1361	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	N	1361;1361;1361;1160;1160	ENSP00000235372:K1361N;ENSP00000312352:K1361N;ENSP00000411103:K1160N;ENSP00000341621:K1160N	ENSP00000235372:K1361N	K	+	3	2	PRDM2	13980960	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.049000	0.49869	1.632000	0.50472	-0.140000	0.14226	AAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14108373	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	1.000	C
PRDM9	56979	genome.wustl.edu	37	5	23524509	23524509	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:23524509C>T	ENST00000296682.3	+	10	1199	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	339	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACAGGCAGATCTTCTATAGAA	0.542										HNSCC(3;0.000094)																																							0													65.0	67.0	67.0					5																	23524509		1894	4103	5997	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1017C>T	5.37:g.23524509C>T			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.I339	ENST00000296682.3	37	c.1017	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_SET_dom		0.542	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	C	NM_020227		23524509	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF512B	57473	genome.wustl.edu	37	20	62654202	62654202	+	Intron	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:62654202C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.A580A|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCTGCGCGCCGCGTACTTCG	0.577																																																	0													113.0	95.0	101.0					20																	62654202		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25855G>A	20.37:g.62654202C>T			Q08AK9|Q9ULM4	Silent	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.A580	ENST00000450537.1	37	c.1740	CCDS13548.1	20																																																																																			PRPF6	-	smart_HAT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	C	NM_020713		62654202	+1	no_errors	ENST00000266079	ensembl	human	known	70_37	silent	SNP	0.003	T
PSG11	5680	genome.wustl.edu	37	19	43519492	43519492	+	Missense_Mutation	SNP	G	G	A	rs375462400		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:43519492G>A	ENST00000401740.1	-	4	843	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG11_ENST00000306322.7_Missense_Mutation_p.S125L|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000320078.7_Missense_Mutation_p.S247L|PSG11_ENST00000403486.1_Missense_Mutation_p.S125L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	245	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGAGGTGACTGAAGGGAAAAT	0.468																																																	0								G	LEU/SER,LEU/SER,LEU/SER	0,4398		0,0,2199	114.0	126.0	122.0		374,740,374	-0.2	0.0	19		122	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	145,145,145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	125/214,247/336,125/214	43519492	1,12993	2199	4298	6497	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.740C>T	19.37:g.43519492G>A	ENSP00000384995:p.Ser247Leu		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S247L	ENST00000401740.1	37	c.740	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	g	11.01	1.513264	0.27123	0.0	1.16E-4	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	0.961	-0.254	0.12992	Immunoglobulin-like (1);	.	.	.	.	T	0.21841	0.0526	M	0.64997	1.995	0.09310	N	1	P;B	0.40144	0.704;0.206	P;B	0.53360	0.724;0.341	T	0.22871	-1.0204	9	0.54805	T	0.06	.	2.8639	0.05595	0.3972:0.0:0.6028:0.0	.	125;247	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	L	247;125;125;247	ENSP00000319140:S247L;ENSP00000385427:S125L;ENSP00000304913:S125L;ENSP00000384995:S247L	ENSP00000304913:S125L	S	-	2	0	PSG11	48211332	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.142000	0.16096	0.437000	0.26423	0.184000	0.17185	TCA	PSG11	-	smart_Ig_sub,pfscan_Ig-like		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	G	NM_002785		43519492	-1	no_errors	ENST00000320078	ensembl	human	known	70_37	missense	SNP	0.000	A
PTBP3	9991	genome.wustl.edu	37	9	115013283	115013283	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:115013283C>G	ENST00000374255.2	-	8	959	c.812G>C	c.(811-813)aGa>aCa	p.R271T	PTBP3_ENST00000334318.6_Missense_Mutation_p.R274T|PTBP3_ENST00000343327.2_Missense_Mutation_p.R176T|RNA5SP295_ENST00000362655.1_RNA|PTBP3_ENST00000458258.1_Missense_Mutation_p.R277T|PTBP3_ENST00000374257.1_Missense_Mutation_p.R243T			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	271					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGTGAAGTCTCTGCTTTTGTC	0.463																																																	0													186.0	193.0	190.0					9																	115013283		2203	4300	6503	SO:0001583	missense	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.812G>C	9.37:g.115013283C>G	ENSP00000363373:p.Arg271Thr		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R277T	ENST00000374255.2	37	c.830	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762683	0.89932	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.63255	-0.01;-0.02;-0.03;-0.03;0.99	5.55	4.64	0.57946	Nucleotide-binding, alpha-beta plait (1);	0.048692	0.85682	D	0.000000	T	0.80757	0.4684	M	0.87682	2.9	0.58432	D	0.999999	D;D;D;D;P;D	0.89917	0.97;0.964;0.989;1.0;0.89;0.997	D;D;D;D;P;D	0.87578	0.937;0.929;0.973;0.998;0.753;0.991	T	0.81241	-0.1022	10	0.44086	T	0.13	-7.0751	15.0099	0.71542	0.0:0.9307:0.0:0.0693	.	243;243;176;274;271;277	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	T	243;274;277;271;176	ENSP00000363375:R243T;ENSP00000334499:R274T;ENSP00000414921:R277T;ENSP00000363373:R271T;ENSP00000340705:R176T	ENSP00000334499:R274T	R	-	2	0	ROD1	114053104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.894000	0.99253	0.591000	0.81541	AGA	PTBP3	-	tigrfam_HnRNP-L_PTB		0.463	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	C			115013283	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	missense	SNP	1.000	G
PTCHD4	442213	genome.wustl.edu	37	6	47846225	47846225	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:47846225G>C	ENST00000339488.4	-	3	2388	c.2355C>G	c.(2353-2355)ttC>ttG	p.F785L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	785						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GCAAGCATTTGAACAGTGTGA	0.443																																																	0													65.0	64.0	65.0					6																	47846225		2203	4300	6503	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2355C>G	6.37:g.47846225G>C	ENSP00000341914:p.Phe785Leu		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.F785L	ENST00000339488.4	37	c.2355	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964056	0.53507	.	.	ENSG00000244694	ENST00000339488	D	0.91792	-2.91	6.01	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.69823	2.125	0.80722	D	1	P	0.52170	0.951	P	0.62491	0.903	D	0.93375	0.6738	10	0.62326	D	0.03	.	12.7996	0.57578	0.1314:0.0:0.8686:0.0	.	785	Q6ZW05	CF138_HUMAN	L	785	ENSP00000341914:F785L	ENSP00000341914:F785L	F	-	3	2	C6orf138	47954184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.827000	0.48112	0.901000	0.36495	0.650000	0.86243	TTC	PTCHD4	-	pfam_Patched		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	G	NM_001013732		47846225	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	missense	SNP	1.000	C
PTGDR2	11251	genome.wustl.edu	37	11	60620887	60620887	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:60620887G>A	ENST00000332539.4	-	2	420	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	103					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	GCAGTTTGCAGAAGGTGGTGC	0.632																																																	0													33.0	28.0	29.0					11																	60620887		2198	4295	6493	SO:0001819	synonymous_variant	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.309C>T	11.37:g.60620887G>A			O94765|Q4QRI6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt	p.F103	ENST00000332539.4	37	c.309	CCDS7994.1	11																																																																																			PTGDR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.632	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR2	HGNC	protein_coding	OTTHUMT00000396328.1	G	NM_004778		60620887	-1	no_errors	ENST00000332539	ensembl	human	known	70_37	silent	SNP	1.000	A
PTGES3	10728	genome.wustl.edu	37	12	57057908	57057908	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:57057908G>A	ENST00000262033.6	-	0	1138				PTGES3_ENST00000436399.2_3'UTR|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_3'UTR	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)						arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						TCCCTAAGCTGAGAGCTTCCT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	10728			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.*355C>T	12.37:g.57057908G>A			A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	RNA	SNP	-	NULL	ENST00000262033.6	37	NULL	CCDS31836.1	12																																																																																			PTGES3	-	-		0.373	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3	HGNC	protein_coding	OTTHUMT00000408054.1	G	NM_006601		57057908	-1	no_errors	ENST00000537473	ensembl	human	known	70_37	rna	SNP	0.127	A
PTPRC	5788	genome.wustl.edu	37	1	198700745	198700745	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:198700745G>C	ENST00000367376.2	+	18	2029		c.e18-1		PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000442510.2_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATGTTTCCAGATGATGAAAA	0.353																																																	0													110.0	108.0	109.0					1																	198700745		2203	4300	6503	SO:0001630	splice_region_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1859-1G>C	1.37:g.198700745G>C			A8K7W6|Q16614|Q9H0Y6	Splice_Site	SNP	-	e17-1	ENST00000367376.2	37	c.1865-1		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042176	0.75732	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9128	0.92493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRC	196967368	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.909000	0.92647	2.433000	0.82419	0.650000	0.86243	.	PTPRC	-	-		0.353	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G		Intron	198700745	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	splice_site	SNP	1.000	C
PVRL2	5819	genome.wustl.edu	37	19	45375367	45375367	+	Missense_Mutation	SNP	G	G	A	rs138153191		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:45375367G>A	ENST00000252483.5	+	3	736	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PVRL2_ENST00000252485.4_Missense_Mutation_p.E246K	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	246	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGAGAGCTTCGAGGAACCAGC	0.592																																																	0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	183.0	135.0	151.0		736,736	-8.5	0.0	19	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PVRL2	NM_001042724.1,NM_002856.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	246/539,246/480	45375367	1,13005	2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.736G>A	19.37:g.45375367G>A	ENSP00000252483:p.Glu246Lys		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E246K	ENST00000252483.5	37	c.736	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261482	0.23051	0.0	1.16E-4	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.76578	-1.03;-1.03	4.25	-8.5	0.00927	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.642500	0.03334	N	0.193855	T	0.59404	0.2191	L	0.28400	0.85	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.17433	0.018;0.01	T	0.45571	-0.9252	10	0.49607	T	0.09	.	1.2	0.01883	0.1661:0.2023:0.4301:0.2015	.	246;246	Q92692;Q92692-2	PVRL2_HUMAN;.	K	246	ENSP00000252483:E246K;ENSP00000252485:E246K	ENSP00000252483:E246K	E	+	1	0	PVRL2	50067207	0.000000	0.05858	0.001000	0.08648	0.909000	0.53808	-3.557000	0.00432	-2.217000	0.00731	-0.367000	0.07326	GAG	PVRL2	-	pfam_CD80_C2-set,pfscan_Ig-like		0.592	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	G	NM_002856		45375367	+1	no_errors	ENST00000252483	ensembl	human	known	70_37	missense	SNP	0.000	A
PYGB	5834	genome.wustl.edu	37	20	25260930	25260930	+	Missense_Mutation	SNP	C	C	G	rs540251614		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:25260930C>G	ENST00000216962.4	+	10	1231	c.1121C>G	c.(1120-1122)gCa>gGa	p.A374G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	374					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AAGACCTGTGCATACACCAAC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		21112	0.001		0.0	False		,,,				2504	0.0																0													135.0	121.0	126.0					20																	25260930		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1121C>G	20.37:g.25260930C>G	ENSP00000216962:p.Ala374Gly		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A374G	ENST00000216962.4	37	c.1121	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093433	0.76756	.	.	ENSG00000100994	ENST00000216962	D	0.94457	-3.43	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	M	0.63428	1.95	0.80722	D	1	P	0.38370	0.628	P	0.48654	0.585	D	0.94389	0.7612	10	0.38643	T	0.18	-14.5899	15.908	0.79445	0.0:1.0:0.0:0.0	.	374	P11216	PYGB_HUMAN	G	374	ENSP00000216962:A374G	ENSP00000216962:A374G	A	+	2	0	PYGB	25208930	1.000000	0.71417	0.964000	0.40570	0.778000	0.44026	7.518000	0.81795	2.144000	0.66660	0.462000	0.41574	GCA	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.542	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	C	NM_002862		25260930	+1	no_errors	ENST00000216962	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB6A	5870	genome.wustl.edu	37	11	73431902	73431902	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:73431902C>G	ENST00000336083.3	-	3	627	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	RP11-456I15.2_ENST00000538624.1_RNA|RAB6A_ENST00000310653.6_Missense_Mutation_p.E58Q|RAB6A_ENST00000536566.1_Missense_Mutation_p.E25Q|RAB6A_ENST00000541588.1_Missense_Mutation_p.E58Q	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	58					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						GTTCGATCCTCCAAGTACATA	0.328																																																	0													114.0	110.0	112.0					11																	73431902		2199	4293	6492	SO:0001583	missense	5870			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.172G>C	11.37:g.73431902C>G	ENSP00000336850:p.Glu58Gln		A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,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.E58Q	ENST00000336083.3	37	c.172	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.886847|4.886847	0.91814|0.91814	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000541588;ENST00000539750;ENST00000535748|ENST00000541973;ENST00000400470	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45677|0.45677	0.1354|0.1354	N|N	0.05259|0.05259	-0.085|-0.085	0.58432|0.58432	D|D	0.999999|0.999999	P;B;B|.	0.42649|.	0.786;0.215;0.441|.	P;B;B|.	0.52031|.	0.688;0.267;0.111|.	T|T	0.39522|0.39522	-0.9610|-0.9610	10|5	0.72032|.	D|.	0.01|.	-3.9821|-3.9821	18.6642|18.6642	0.91483|0.91483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	58;58;58|.	Q1W5D8;P20340;P20340-2|.	.;RAB6A_HUMAN;.|.	Q|C	58;58;58;25;58;58;58|50;49	ENSP00000311449:E58Q;ENSP00000336850:E58Q;ENSP00000437863:E25Q;ENSP00000445350:E58Q|.	ENSP00000311449:E58Q|.	E|W	-|-	1|3	0|0	RAB6A|RAB6A	73109550|73109550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.112000|7.112000	0.77086|0.77086	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAG|TGG	RAB6A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.328	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	HGNC	protein_coding	OTTHUMT00000259241.2	C			73431902	-1	no_errors	ENST00000310653	ensembl	human	known	70_37	missense	SNP	1.000	G
RASD1	51655	genome.wustl.edu	37	17	17399274	17399274	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:17399274G>C	ENST00000225688.3	-	1	433	c.222C>G	c.(220-222)ctC>ctG	p.L74L	RASD1_ENST00000579152.1_Silent_p.L74L	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	74					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGAGGATGTCGAGCTGGTAGA	0.677																																																	0													109.0	93.0	98.0					17																	17399274		2203	4300	6503	SO:0001819	synonymous_variant	51655			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.222C>G	17.37:g.17399274G>C			B2R709|B4DFF4|Q9NYB4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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.L74	ENST00000225688.3	37	c.222	CCDS11185.1	17																																																																																			RASD1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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		0.677	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	G	NM_016084		17399274	-1	no_errors	ENST00000225688	ensembl	human	known	70_37	silent	SNP	0.999	C
RAVER1	125950	genome.wustl.edu	37	19	10432289	10432289	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:10432289G>A	ENST00000293677.6	-	7	1311	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	393	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCAGGATGCCGGGCTTCTAGG	0.677																																																	0													34.0	41.0	39.0					19																	10432289		2012	4153	6165	SO:0001819	synonymous_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1230C>T	19.37:g.10432289G>A			A6NMU4|Q8IY60|Q8TF24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P410	ENST00000293677.6	37	c.1230	CCDS45960.1	19																																																																																			RAVER1	-	NULL		0.677	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10432289	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	silent	SNP	0.142	A
RASIP1	54922	genome.wustl.edu	37	19	49230681	49230681	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49230681T>A	ENST00000222145.4	-	6	2044	c.1840A>T	c.(1840-1842)Att>Ttt	p.I614F	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	614	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ATTTCCTTAATCTTTTCCTGT	0.448																																																	0													91.0	89.0	90.0					19																	49230681		2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1840A>T	19.37:g.49230681T>A	ENSP00000222145:p.Ile614Phe		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.I614F	ENST00000222145.4	37	c.1840	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663321	0.88251	.	.	ENSG00000105538	ENST00000222145	T	0.25749	1.78	5.46	5.46	0.80206	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.50333	1.59	0.53688	D	0.999979	D	0.65815	0.995	P	0.56278	0.795	T	0.07290	-1.0780	10	0.42905	T	0.14	-0.0164	13.7835	0.63094	0.0:0.0:0.0:1.0	.	614	Q5U651	RAIN_HUMAN	F	614	ENSP00000222145:I614F	ENSP00000222145:I614F	I	-	1	0	RASIP1	53922493	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.363000	0.73082	2.213000	0.71641	0.482000	0.46254	ATT	RASIP1	-	pfscan_Dilute		0.448	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	T	NM_017805		49230681	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM39	9584	genome.wustl.edu	37	20	34330028	34330028	+	5'Flank	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:34330028G>C	ENST00000253363.6	-	0	0				RBM39_ENST00000528062.3_5'UTR|RBM39_ENST00000361162.6_5'UTR|RBM39_ENST00000397370.3_5'UTR|RBM39_ENST00000463098.1_5'UTR|RBM39_ENST00000407261.4_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGCTAGGCCCGAGAGAATCTA	0.617																																																	0																																										SO:0001631	upstream_gene_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358		20.37:g.34330028G>C	Exception_encountered		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	RNA	SNP	-	NULL	ENST00000253363.6	37	NULL	CCDS13266.1	20																																																																																			RBM39	-	-		0.617	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	G	NM_184237		34330028	-1	no_errors	ENST00000463098	ensembl	human	known	70_37	rna	SNP	0.990	C
RBM42	79171	genome.wustl.edu	37	19	36128198	36128198	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:36128198G>A	ENST00000262633.4	+	9	1379	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	RBM42_ENST00000589871.1_Missense_Mutation_p.G403D|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.G395D|RBM42_ENST00000586618.1_Missense_Mutation_p.G129D|RBM42_ENST00000592202.1_Missense_Mutation_p.G371D|RBM42_ENST00000360475.4_Missense_Mutation_p.G396D	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	425	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGGCTACGGCTTCGTCAGC	0.627																																																	0													112.0	85.0	94.0					19																	36128198		2203	4300	6503	SO:0001583	missense	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1274G>A	19.37:g.36128198G>A	ENSP00000262633:p.Gly425Asp		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G425D	ENST00000262633.4	37	c.1274	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775066	0.70107	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.49432	0.78;0.78	5.78	4.75	0.60458	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050482	0.85682	D	0.000000	T	0.80534	0.4641	H	0.98918	4.37	0.80722	D	1	D;B;D;B	0.89917	1.0;0.004;1.0;0.006	D;B;D;B	0.91635	0.999;0.012;0.998;0.032	D	0.87385	0.2359	10	0.87932	D	0	-2.4997	12.6938	0.56992	0.0794:0.0:0.9206:0.0	.	391;396;395;425	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	D	425;396	ENSP00000262633:G425D;ENSP00000353663:G396D	ENSP00000262633:G425D	G	+	2	0	RBM42	40820038	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.637000	0.98443	1.456000	0.47831	0.655000	0.94253	GGC	RBM42	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.627	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	G	NM_024321		36128198	+1	no_errors	ENST00000262633	ensembl	human	known	70_37	missense	SNP	1.000	A
RBP5	83758	genome.wustl.edu	37	12	7277327	7277327	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:7277327C>G	ENST00000266560.3	-	3	419		c.e3-1		C1RL-AS1_ENST00000541775.1_RNA|C1RL-AS1_ENST00000535078.1_RNA|C1RL-AS1_ENST00000545775.1_RNA	NM_031491.2	NP_113679.1	P29762	RABP1_HUMAN	retinol binding protein 5, cellular						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Alitretinoin(DB00523)|Tretinoin(DB00755)	TTACTATGGTCTATAGGGGAA	0.537																																																	0													90.0	91.0	91.0					12																	7277327		2203	4300	6503	SO:0001630	splice_region_variant	83758			AY007436	CCDS8574.1	12p13.31	2013-03-01	2001-11-28		ENSG00000139194	ENSG00000139194		"""Fatty acid binding protein family"""	15847	protein-coding gene	gene with protein product		611866	"""retinol-binding protein 5, cellular"""			11274389	Standard	NM_031491		Approved	CRBPIII	uc001qsq.3	P82980	OTTHUMG00000168165	ENST00000266560.3:c.253-1G>C	12.37:g.7277327C>G			Q6IAY7|Q8WTV5	Splice_Site	SNP	-	e3-1	ENST00000266560.3	37	c.253-1	CCDS8574.1	12	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838687	0.51057	.	.	ENSG00000139194	ENST00000266560	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2858	0.82720	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBP5	7168601	1.000000	0.71417	0.995000	0.50966	0.663000	0.39108	7.152000	0.77419	2.257000	0.74773	0.455000	0.32223	.	RBP5	-	-		0.537	RBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP5	HGNC	protein_coding	OTTHUMT00000398554.1	C	NM_031491	Intron	7277327	-1	no_errors	ENST00000266560	ensembl	human	known	70_37	splice_site	SNP	1.000	G
RECQL5	9400	genome.wustl.edu	37	17	73624459	73624459	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:73624459C>T	ENST00000317905.5	-	18	2803	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E855K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	882					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTTGACCTCAGCTACGACG	0.642								Other identified genes with known or suspected DNA repair function																																									0													61.0	73.0	69.0					17																	73624459		2085	4197	6282	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2644G>A	17.37:g.73624459C>T	ENSP00000317636:p.Glu882Lys		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E882K	ENST00000317905.5	37	c.2644	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767491	0.49574	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.56611	0.45	5.48	5.48	0.80851	.	0.301034	0.28047	N	0.016809	T	0.63815	0.2543	L	0.57536	1.79	0.80722	D	1	B;B;D	0.65815	0.329;0.329;0.995	B;B;D	0.64144	0.065;0.065;0.922	T	0.57452	-0.7809	10	0.18276	T	0.48	-29.9562	13.3668	0.60689	0.0:0.7347:0.2653:0.0	.	882;855;78	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	K	477;882;882	ENSP00000317636:E882K	ENSP00000317636:E882K	E	-	1	0	RECQL5	71136054	0.837000	0.29446	0.461000	0.27105	0.010000	0.07245	2.190000	0.42630	2.568000	0.86640	0.563000	0.77884	GAG	RECQL5	-	NULL		0.642	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	C	NM_004259		73624459	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	missense	SNP	0.831	T
REST	5978	genome.wustl.edu	37	4	57797419	57797419	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:57797419C>G	ENST00000309042.7	+	4	2709	c.2395C>G	c.(2395-2397)Cct>Gct	p.P799A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	799	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAGCCACCTCCTCCCAGAGA	0.537																																																	0													106.0	118.0	114.0					4																	57797419		2203	4300	6503	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2395C>G	4.37:g.57797419C>G	ENSP00000311816:p.Pro799Ala		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P799A	ENST00000309042.7	37	c.2395	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	C	6.344	0.431482	0.12045	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.10382	2.88	3.73	2.86	0.33363	.	0.313426	0.23521	N	0.047290	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P;B	0.42908	0.793;0.437	B;B	0.39562	0.303;0.054	T	0.37957	-0.9683	10	0.17832	T	0.49	0.6837	7.5873	0.27999	0.0:0.8772:0.0:0.1228	.	776;799	F8WAN5;Q13127	.;REST_HUMAN	A	799;776	ENSP00000311816:P799A	ENSP00000311816:P799A	P	+	1	0	REST	57492176	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.156000	0.10100	0.876000	0.35872	0.655000	0.94253	CCT	REST	-	NULL		0.537	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	C	NM_005612		57797419	+1	no_errors	ENST00000309042	ensembl	human	known	70_37	missense	SNP	0.003	G
RETSAT	54884	genome.wustl.edu	37	2	85576669	85576669	+	Missense_Mutation	SNP	C	C	T	rs149931287		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85576669C>T	ENST00000295802.4	-	5	947	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	RETSAT_ENST00000263854.6_Missense_Mutation_p.A279T|RETSAT_ENST00000457495.2_Missense_Mutation_p.A218T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	279					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ACCAGCAGGGCGTGCATGGAA	0.567																																																	0								C	THR/ALA	0,4406		0,0,2203	83.0	73.0	76.0		835	5.4	0.9	2	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RETSAT	NM_017750.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	279/611	85576669	2,13004	2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.835G>A	2.37:g.85576669C>T	ENSP00000295802:p.Ala279Thr		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.A279T	ENST00000295802.4	37	c.835	CCDS1972.1	2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751713	0.49362	0.0	2.33E-4	ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495	T;T;T	0.61158	0.13;0.13;0.13	5.44	5.44	0.79542	.	0.161907	0.56097	D	0.000035	T	0.73133	0.3548	M	0.88979	2.995	0.18873	N	0.999987	D;D;D	0.65815	0.987;0.987;0.995	P;P;P	0.55713	0.782;0.782;0.581	T	0.70193	-0.4939	10	0.48119	T	0.1	-10.8834	11.8001	0.52122	0.1754:0.8246:0.0:0.0	.	218;218;279	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	279;279;218	ENSP00000295802:A279T;ENSP00000263854:A279T;ENSP00000405040:A218T	ENSP00000263854:A279T	A	-	1	0	RETSAT	85430180	0.047000	0.20315	0.894000	0.35097	0.025000	0.11179	0.995000	0.29706	2.559000	0.86315	0.563000	0.77884	GCC	RETSAT	-	pfam_FAD-dep_OxRdtase		0.567	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	C	NM_017750		85576669	-1	no_errors	ENST00000295802	ensembl	human	known	70_37	missense	SNP	0.251	T
RGPD4	285190	genome.wustl.edu	37	2	108489281	108489281	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:108489281C>A	ENST00000408999.3	+	20	4898	c.4821C>A	c.(4819-4821)aaC>aaA	p.N1607K	RGPD4_ENST00000354986.4_Missense_Mutation_p.N1607K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1607					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGTCAAAGAACTCTGATATCG	0.358																																																	0													4.0	4.0	4.0					2																	108489281		655	1501	2156	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4821C>A	2.37:g.108489281C>A	ENSP00000386810:p.Asn1607Lys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.N1607K	ENST00000408999.3	37	c.4821	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	8.358	0.832480	0.16820	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38887	1.11;1.12	2.33	0.391	0.16282	.	.	.	.	.	T	0.32071	0.0817	L	0.60455	1.87	0.09310	N	1	P	0.39216	0.664	B	0.32928	0.155	T	0.17592	-1.0364	9	0.51188	T	0.08	-5.4116	5.786	0.18333	0.0:0.6847:0.0:0.3153	.	1607	Q7Z3J3	RGPD4_HUMAN	K	1607;1607;974	ENSP00000347081:N1607K;ENSP00000386810:N1607K	ENSP00000347081:N1607K	N	+	3	2	RGPD4	107855713	0.000000	0.05858	0.088000	0.20740	0.204000	0.24138	-0.070000	0.11523	0.310000	0.22990	0.162000	0.16502	AAC	RGPD4	-	NULL		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108489281	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.008	A
RHCG	51458	genome.wustl.edu	37	15	90016047	90016047	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:90016047G>T	ENST00000268122.4	-	10	1427	c.1359C>A	c.(1357-1359)ttC>ttA	p.F453L	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	453					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ctgagggCTTGAAGGTGGGGT	0.602											OREG0023459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													146.0	103.0	117.0					15																	90016047		2176	4262	6438	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1359C>A	15.37:g.90016047G>T	ENSP00000268122:p.Phe453Leu	1271	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.F453L	ENST00000268122.4	37	c.1359	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	G	9.042	0.990023	0.18966	.	.	ENSG00000140519	ENST00000268122;ENST00000536247	T	0.19394	2.15	4.31	4.31	0.51392	.	6.281080	0.00166	N	0.000001	T	0.12732	0.0309	N	0.03608	-0.345	0.54753	D	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	9	.	.	.	-6.1576	12.607	0.56529	0.0:0.0:1.0:0.0	.	453	Q9UBD6	RHCG_HUMAN	L	453;444	ENSP00000268122:F453L	.	F	-	3	2	RHCG	87817051	0.778000	0.28640	0.040000	0.18447	0.096000	0.18686	1.126000	0.31344	2.703000	0.92315	0.655000	0.94253	TTC	RHCG	-	NULL		0.602	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	G	NM_016321		90016047	-1	no_errors	ENST00000268122	ensembl	human	known	70_37	missense	SNP	0.044	T
RIMS1	22999	genome.wustl.edu	37	6	72975693	72975693	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:72975693G>A	ENST00000521978.1	+	22	3339	c.3339G>A	c.(3337-3339)agG>agA	p.R1113R	RIMS1_ENST00000264839.7_Silent_p.R1075R|RIMS1_ENST00000517827.1_Silent_p.R508R|RIMS1_ENST00000401910.3_Silent_p.R522R|RIMS1_ENST00000523963.1_Silent_p.R523R|RIMS1_ENST00000520567.1_Silent_p.R1048R|RIMS1_ENST00000425662.2_Silent_p.R442R|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Silent_p.R1049R|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Silent_p.R1049R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1113					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGGGCTAGGAGTGCTAGTA	0.403																																																	0													48.0	46.0	47.0					6																	72975693		1874	4111	5985	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3339G>A	6.37:g.72975693G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R1113	ENST00000521978.1	37	c.3339	CCDS47449.1	6																																																																																			RIMS1	-	NULL		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72975693	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A
RORC	6097	genome.wustl.edu	37	1	151785700	151785700	+	Intron	SNP	C	C	G	rs372774021		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151785700C>G	ENST00000318247.6	-	8	1282				RORC_ENST00000356728.6_Intron|RORC_ENST00000392697.3_Intron|RORC_ENST00000480719.1_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCTCATTTCTCCCTGCCCC	0.542																																																	0													160.0	166.0	164.0					1																	151785700		2203	4300	6503	SO:0001627	intron_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1174+14G>C	1.37:g.151785700C>G			Q5SZR9|Q8N5V7|Q8NCY8	RNA	SNP	-	NULL	ENST00000318247.6	37	NULL	CCDS1004.1	1																																																																																			RORC	-	-		0.542	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	C			151785700	-1	no_errors	ENST00000480719	ensembl	human	known	70_37	rna	SNP	0.021	G
RP1	6101	genome.wustl.edu	37	8	55539114	55539114	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:55539114G>T	ENST00000220676.1	+	4	2820	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	891					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTACAACCAGGGCAAATTCT	0.323																																					Colon(91;1014 1389 7634 14542 40420)												0													31.0	34.0	33.0					8																	55539114		2200	4296	6496	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2672G>T	8.37:g.55539114G>T	ENSP00000220676:p.Arg891Met			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R891M	ENST00000220676.1	37	c.2672	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615008	0.28712	.	.	ENSG00000104237	ENST00000220676	T	0.50813	0.73	5.55	4.68	0.58851	.	0.219079	0.32819	N	0.005620	T	0.58850	0.2151	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.56505	-0.7968	10	0.87932	D	0	.	13.4657	0.61251	0.0754:0.0:0.9246:0.0	.	891	P56715	RP1_HUMAN	M	891	ENSP00000220676:R891M	ENSP00000220676:R891M	R	+	2	0	RP1	55701667	0.008000	0.16893	0.364000	0.25888	0.256000	0.26092	1.225000	0.32551	1.344000	0.45657	-0.136000	0.14681	AGG	RP1	-	NULL		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55539114	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.080	T
RPS16	6217	genome.wustl.edu	37	19	39923928	39923928	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:39923928C>T	ENST00000251453.3	-	5	478	c.426G>A	c.(424-426)caG>caA	p.Q142Q	RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000601655.1_Silent_p.Q125Q|RPS16_ENST00000339471.4_3'UTR	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	142					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTAGGATTTCTGGTAGCGAG	0.488																																																	0													59.0	63.0	62.0					19																	39923928		2203	4300	6503	SO:0001819	synonymous_variant	6217			M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"""S ribosomal proteins"""	10396	protein-coding gene	gene with protein product	"""40S ribosomal protein S16"""	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.426G>A	19.37:g.39923928C>T			B2RDD5|P17008	Silent	SNP	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold	p.Q142	ENST00000251453.3	37	c.426	CCDS12535.1	19																																																																																			RPS16	-	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold		0.488	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS16	HGNC	protein_coding	OTTHUMT00000464511.1	C	NM_001020		39923928	-1	no_errors	ENST00000251453	ensembl	human	known	70_37	silent	SNP	1.000	T
RRP1B	23076	genome.wustl.edu	37	21	45092192	45092192	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr21:45092192G>C	ENST00000340648.4	+	3	334	c.217G>C	c.(217-219)Gag>Cag	p.E73Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	73					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCTGCAGGAAGAGCTCGCCAA	0.557																																																	0													174.0	145.0	155.0					21																	45092192		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.217G>C	21.37:g.45092192G>C	ENSP00000339145:p.Glu73Gln		Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.E73Q	ENST00000340648.4	37	c.217	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223825	0.58668	.	.	ENSG00000160208	ENST00000340648	T	0.46819	0.86	5.82	4.95	0.65309	.	0.162210	0.53938	D	0.000048	T	0.58609	0.2134	L	0.56340	1.77	0.53688	D	0.999972	D	0.63880	0.993	P	0.61070	0.883	T	0.61884	-0.6971	10	0.87932	D	0	-13.8653	10.8371	0.46694	0.0863:0.0:0.9137:0.0	.	73	Q14684	RRP1B_HUMAN	Q	73	ENSP00000339145:E73Q	ENSP00000339145:E73Q	E	+	1	0	RRP1B	43916620	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	4.764000	0.62264	1.476000	0.48215	0.563000	0.77884	GAG	RRP1B	-	pfam_Nop52		0.557	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45092192	+1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	C
RUVBL2	10856	genome.wustl.edu	37	19	49510586	49510586	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49510586G>A	ENST00000595090.1	+	6	887	c.423G>A	c.(421-423)gaG>gaA	p.E141E	RUVBL2_ENST00000413176.2_Silent_p.E96E|RUVBL2_ENST00000601968.1_Silent_p.E96E	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	141					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCGAAGGGGAGGTGGTGGAGA	0.582																																																	0													112.0	122.0	118.0					19																	49510586		2091	4224	6315	SO:0001819	synonymous_variant	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.423G>A	19.37:g.49510586G>A			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.E141	ENST00000595090.1	37	c.423	CCDS42588.1	19																																																																																			RUVBL2	-	pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase		0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	G			49510586	+1	no_errors	ENST00000595090	ensembl	human	known	70_37	silent	SNP	1.000	A
RXFP1	59350	genome.wustl.edu	37	4	159568311	159568311	+	Missense_Mutation	SNP	G	G	C	rs368105232		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:159568311G>C	ENST00000307765.5	+	16	1965	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	RXFP1_ENST00000448688.2_Missense_Mutation_p.E467Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.E539Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.E524Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.E491Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333																																																	0													57.0	54.0	55.0					4																	159568311		1810	4080	5890	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1714G>C	4.37:g.159568311G>C	ENSP00000303248:p.Glu572Gln		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.E572Q	ENST00000307765.5	37	c.1714	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318912	0.81469	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.046575	0.85682	D	0.000000	T	0.59376	0.2189	M	0.68952	2.095	0.50039	D	0.99984	P;D;P;B;P;B;P;P	0.61080	0.845;0.989;0.845;0.108;0.903;0.034;0.845;0.921	P;D;P;B;P;B;P;P	0.65140	0.723;0.932;0.609;0.185;0.761;0.056;0.799;0.846	T	0.56323	-0.7998	10	0.48119	T	0.1	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	583;599;467;524;539;491;442;572	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	Q	491;572;467;524;539;442	ENSP00000423306:E491Q;ENSP00000303248:E572Q;ENSP00000414885:E467Q;ENSP00000345889:E524Q;ENSP00000420712:E539Q	ENSP00000303248:E572Q	E	+	1	0	RXFP1	159787761	1.000000	0.71417	0.519000	0.27824	0.681000	0.39784	9.777000	0.99008	2.720000	0.93068	0.650000	0.86243	GAA	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159568311	+1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237756843	237756843	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:237756843C>T	ENST00000366574.2	+	33	4660	c.4343C>T	c.(4342-4344)tCa>tTa	p.S1448L	RYR2_ENST00000542537.1_Missense_Mutation_p.S1432L|RYR2_ENST00000360064.6_Missense_Mutation_p.S1446L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1448	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTACATCAGATTTCCAT	0.413																																																	0													106.0	98.0	101.0					1																	237756843		1915	4120	6035	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4343C>T	1.37:g.237756843C>T	ENSP00000355533:p.Ser1448Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1446L	ENST00000366574.2	37	c.4337	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266859	0.80469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69435	-0.4;-0.4;-0.4	5.26	5.26	0.73747	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.226779	0.28544	N	0.014969	T	0.58192	0.2105	L	0.27053	0.805	0.80722	D	1	B	0.24043	0.096	B	0.21917	0.037	T	0.57929	-0.7726	10	0.87932	D	0	.	19.0623	0.93097	0.0:1.0:0.0:0.0	.	1448	Q92736	RYR2_HUMAN	L	1448;1446;1432	ENSP00000355533:S1448L;ENSP00000353174:S1446L;ENSP00000443798:S1432L	ENSP00000353174:S1446L	S	+	2	0	RYR2	235823466	0.993000	0.37304	0.072000	0.20136	0.979000	0.70002	7.647000	0.83462	2.727000	0.93392	0.650000	0.86243	TCA	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237756843	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.811	T
RYR2	6262	genome.wustl.edu	37	1	237936946	237936946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:237936946C>T	ENST00000366574.2	+	87	12090	c.11773C>T	c.(11773-11775)Cag>Tag	p.Q3925*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3909*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3931*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3925					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGTATATTCAGGTAAACAT	0.368																																																	0													78.0	74.0	75.0					1																	237936946		1844	4089	5933	SO:0001587	stop_gained	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11773C>T	1.37:g.237936946C>T	ENSP00000355533:p.Gln3925*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q3931*	ENST00000366574.2	37	c.11791	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	53	21.337708	0.99939	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0707	18.7632	0.91862	0.0:1.0:0.0:0.0	.	.	.	.	X	3925;3931;3909;899	.	ENSP00000353174:Q3931X	Q	+	1	0	RYR2	236003569	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.776000	0.85560	2.493000	0.84123	0.579000	0.79373	CAG	RYR2	-	pfam_RIH_assoc-dom		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237936946	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34021064	34021064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:34021064C>A	ENST00000389232.4	+	47	7110	c.7040C>A	c.(7039-7041)tCg>tAg	p.S2347*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.S2347*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2347	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATGGGTCGGTCAGTGAG	0.443																																																	0													49.0	50.0	49.0					15																	34021064		1878	4105	5983	SO:0001587	stop_gained	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7040C>A	15.37:g.34021064C>A	ENSP00000373884:p.Ser2347*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S2347*	ENST00000389232.4	37	c.7040	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	48	14.176322	0.99783	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.85	4.85	0.62838	.	0.242632	0.34676	N	0.003773	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4806	0.61334	0.1563:0.8437:0.0:0.0	.	.	.	.	X	2347	.	ENSP00000354735:S2347X	S	+	2	0	RYR3	31808356	0.980000	0.34600	0.974000	0.42286	0.676000	0.39594	3.790000	0.55461	2.687000	0.91594	0.563000	0.77884	TCG	RYR3	-	NULL		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34021064	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	nonsense	SNP	0.868	A
SAMD3	154075	genome.wustl.edu	37	6	130505720	130505720	+	Silent	SNP	C	C	T	rs377087757		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:130505720C>T	ENST00000368134.2	-	8	1040	c.432G>A	c.(430-432)acG>acA	p.T144T	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.T144T|SAMD3_ENST00000437477.2_Silent_p.T144T|SAMD3_ENST00000457563.2_Silent_p.T168T|SAMD3_ENST00000439090.2_Silent_p.T144T|SAMD3_ENST00000532763.1_Silent_p.T142T	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	144										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATAGGACTTCGTCCACTGTA	0.373																																																	0													114.0	103.0	107.0					6																	130505720		2203	4300	6503	SO:0001819	synonymous_variant	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.432G>A	6.37:g.130505720C>T			B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T144	ENST00000368134.2	37	c.432	CCDS34539.1	6																																																																																			SAMD3	-	NULL		0.373	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	C	NM_152552		130505720	-1	no_errors	ENST00000368134	ensembl	human	known	70_37	silent	SNP	0.176	T
SBF2	81846	genome.wustl.edu	37	11	9867227	9867227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:9867227G>A	ENST00000256190.8	-	24	3132	c.2995C>T	c.(2995-2997)Cag>Tag	p.Q999*	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	999					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCATCAGCTGTTTCTTAAAG	0.363																																																	0													183.0	191.0	189.0					11																	9867227		2201	4294	6495	SO:0001587	stop_gained	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2995C>T	11.37:g.9867227G>A	ENSP00000256190:p.Gln999*		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.Q999*	ENST00000256190.8	37	c.2995	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.310137	0.99380	.	.	ENSG00000133812	ENST00000256190	.	.	.	6.03	6.03	0.97812	.	0.157289	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	999	.	ENSP00000256190:Q999X	Q	-	1	0	SBF2	9823803	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	9.459000	0.97638	2.861000	0.98227	0.655000	0.94253	CAG	SBF2	-	NULL		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		9867227	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SCN1B	6324	genome.wustl.edu	37	19	35530121	35530121	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:35530121G>C	ENST00000262631.5	+	4	686	c.549G>C	c.(547-549)aaG>aaC	p.K183N	HPN_ENST00000597419.1_5'Flank|CTD-2527I21.9_ENST00000601692.1_RNA|HPN_ENST00000262626.2_5'Flank|SCN1B_ENST00000595652.1_Missense_Mutation_p.K112N|SCN1B_ENST00000596348.1_3'UTR|HPN_ENST00000392226.1_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	183					axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGCTACAAGAAGATCGCTG	0.552																																																	0													138.0	120.0	126.0					19																	35530121		2203	4300	6503	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.549G>C	19.37:g.35530121G>C	ENSP00000262631:p.Lys183Asn		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.K183N	ENST00000262631.5	37	c.549	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213593	0.79352	.	.	ENSG00000105711	ENST00000262631	D	0.98234	-4.81	4.09	4.09	0.47781	.	0.065691	0.64402	D	0.000013	D	0.95714	0.8606	L	0.34521	1.04	0.80722	D	1	P;P	0.51791	0.948;0.895	B;B	0.43783	0.431;0.264	D	0.95564	0.8632	10	0.72032	D	0.01	.	11.6924	0.51523	0.0:0.0:1.0:0.0	.	112;183	B4DI92;Q07699	.;SCN1B_HUMAN	N	183	ENSP00000262631:K183N	ENSP00000262631:K183N	K	+	3	2	SCN1B	40221961	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.321000	0.51999	2.121000	0.65114	0.462000	0.41574	AAG	SCN1B	-	NULL		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35530121	+1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	1.000	C
SCRN2	90507	genome.wustl.edu	37	17	45918151	45918151	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:45918151G>A	ENST00000290216.9	-	2	184	c.59C>T	c.(58-60)cCg>cTg	p.P20L	SCRN2_ENST00000407215.3_Missense_Mutation_p.P20L|SCRN2_ENST00000584123.1_Missense_Mutation_p.P28L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	20						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGCTGAGGCCGGGGGCACGGA	0.652																																																	0													29.0	35.0	33.0					17																	45918151		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.59C>T	17.37:g.45918151G>A	ENSP00000290216:p.Pro20Leu		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.P20L	ENST00000290216.9	37	c.59	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	34	5.300134	0.95574	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09163	3.14;3.01	5.55	5.55	0.83447	.	0.052627	0.85682	D	0.000000	T	0.27063	0.0663	M	0.85197	2.74	0.80722	D	1	D;D;D	0.53151	0.958;0.958;0.958	B;P;P	0.47470	0.419;0.548;0.548	T	0.09751	-1.0660	10	0.72032	D	0.01	-29.4167	18.2917	0.90133	0.0:0.0:1.0:0.0	.	20;20;20	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	L	20	ENSP00000290216:P20L;ENSP00000383935:P20L	ENSP00000290216:P20L	P	-	2	0	SCRN2	43273150	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.628000	0.98415	2.636000	0.89361	0.651000	0.88453	CCG	SCRN2	-	NULL		0.652	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918151	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	1.000	A
SCRN2	90507	genome.wustl.edu	37	17	45918160	45918160	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:45918160G>A	ENST00000290216.9	-	2	175	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SCRN2_ENST00000407215.3_Missense_Mutation_p.S17F|SCRN2_ENST00000584123.1_Missense_Mutation_p.S25F	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	17						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CGGGGGCACGGAGACAAAGCA	0.667																																																	0													30.0	36.0	34.0					17																	45918160		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.50C>T	17.37:g.45918160G>A	ENSP00000290216:p.Ser17Phe		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.S17F	ENST00000290216.9	37	c.50	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	28.8	4.948242	0.92593	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08282	3.25;3.11	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66196	0.942;0.942;0.942	T	0.00322	-1.1818	10	0.87932	D	0	-18.6934	18.2917	0.90133	0.0:0.0:1.0:0.0	.	17;17;17	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	F	17	ENSP00000290216:S17F;ENSP00000383935:S17F	ENSP00000290216:S17F	S	-	2	0	SCRN2	43273159	1.000000	0.71417	0.937000	0.37676	0.921000	0.55340	9.625000	0.98406	2.636000	0.89361	0.651000	0.88453	TCC	SCRN2	-	NULL		0.667	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918160	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	1.000	A
SEC16A	9919	genome.wustl.edu	37	9	139371076	139371076	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:139371076G>A	ENST00000371706.3	-	1	491	c.458C>T	c.(457-459)tCt>tTt	p.S153F	SEC16A_ENST00000290037.6_Missense_Mutation_p.S153F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S153F|SEC16A_ENST00000313050.7_Missense_Mutation_p.S331F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	153					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACAAGAGCAGAGGCGGGCCG	0.602																																																	0													26.0	30.0	29.0					9																	139371076		1884	4104	5988	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.458C>T	9.37:g.139371076G>A	ENSP00000360771:p.Ser153Phe		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.S331F	ENST00000371706.3	37	c.992		9	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818967	0.32145	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.91	0.878	0.19150	.	0.238942	0.32987	N	0.005404	T	0.11324	0.0276	N	0.14661	0.345	0.21527	N	0.99966	P;P;P	0.37636	0.468;0.603;0.603	B;B;B	0.30495	0.054;0.116;0.116	T	0.15578	-1.0432	10	0.66056	D	0.02	-4.0595	6.9916	0.24758	0.1865:0.1242:0.6892:0.0	.	331;153;153	F1T0I1;O15027-5;O15027-4	.;.;.	F	331;153;153;153	ENSP00000325827:S331F;ENSP00000360771:S153F;ENSP00000290037:S153F;ENSP00000387583:S153F	ENSP00000290037:S153F	S	-	2	0	SEC16A	138490897	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.882000	0.28186	-0.037000	0.13646	-0.150000	0.13652	TCT	SEC16A	-	NULL		0.602	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139371076	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.002	A
SEC63	11231	genome.wustl.edu	37	6	108204293	108204293	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:108204293C>G	ENST00000369002.4	-	17	1911	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	578					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GTTTCTTCTTCTTCAGAATCA	0.383																																																	0													152.0	134.0	140.0					6																	108204293		2203	4300	6503	SO:0001583	missense	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1732G>C	6.37:g.108204293C>G	ENSP00000357998:p.Glu578Gln		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E578Q	ENST00000369002.4	37	c.1732	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591300	0.66219	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70282	-0.47	5.15	5.15	0.70609	Sec63 domain (2);	0.088417	0.85682	D	0.000000	T	0.52805	0.1757	L	0.52573	1.65	0.80722	D	1	B;P	0.38395	0.059;0.629	B;B	0.32465	0.023;0.146	T	0.56456	-0.7976	10	0.26408	T	0.33	-14.1671	18.9898	0.92786	0.0:1.0:0.0:0.0	.	578;578	Q9UGP8;B3KQF0	SEC63_HUMAN;.	Q	578;229	ENSP00000357998:E578Q	ENSP00000357998:E578Q	E	-	1	0	SEC63	108310986	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.110000	0.77069	2.555000	0.86185	0.650000	0.86243	GAA	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	C	NM_007214		108204293	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	missense	SNP	1.000	G
SELK	58515	genome.wustl.edu	37	3	53920923	53920923	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:53920923C>T	ENST00000495461.1	-	3	348	c.149G>A	c.(148-150)aGa>aAa	p.R50K	SELK_ENST00000485414.1_5'Flank|SELK_ENST00000541726.1_Missense_Mutation_p.R50K			Q9Y6D0	SELK_HUMAN		50			R -> S (in dbSNP:rs11562).		calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCCATAGCTTCTTCTTTTTTT	0.313																																																	0													49.0	45.0	46.0					3																	53920923		1817	4066	5883	SO:0001583	missense	58515																														ENST00000495461.1:c.149G>A	3.37:g.53920923C>T	ENSP00000418813:p.Arg50Lys		Q8IZQ3|Q9P085	Missense_Mutation	SNP	pfam_Se_SelK/SelG	p.R50K	ENST00000495461.1	37	c.149	CCDS54597.1	3	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158143	0.21454	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.44482	0.92;0.92	5.33	5.33	0.75918	.	0.106439	0.64402	D	0.000003	T	0.29355	0.0731	.	.	.	0.40350	D	0.979121	B	0.16396	0.017	B	0.19666	0.026	T	0.11470	-1.0586	9	0.09590	T	0.72	-2.006	17.5881	0.87988	0.0:1.0:0.0:0.0	.	50	Q9Y6D0	SELK_HUMAN	K	50	ENSP00000418813:R50K;ENSP00000443164:R50K	ENSP00000417272:R50K	R	-	2	0	RP11-884K10.5	53895963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.660000	0.46749	2.512000	0.84698	0.462000	0.41574	AGA	SELK	-	pfam_Se_SelK/SelG		0.313	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_genename	protein_coding	OTTHUMT00000351659.1	C			53920923	-1	no_errors	ENST00000541726	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA6C	10500	genome.wustl.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:151108092C>T	ENST00000341697.3	-	14	3099	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602																																																	1	Substitution - Missense(1)	lung(1)											78.0	80.0	79.0					1																	151108092		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1408G>A	1.37:g.151108092C>T	ENSP00000344148:p.Glu470Lys		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.E470K	ENST00000341697.3	37	c.1408	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001978	0.93227	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.113135	0.64402	D	0.000017	T	0.59238	0.2179	M	0.93283	3.4	0.43740	D	0.996236	D;D;D;D	0.89917	1.0;0.99;0.999;0.999	D;D;D;D	0.76071	0.986;0.979;0.968;0.987	T	0.72087	-0.4396	10	0.87932	D	0	.	15.2959	0.73906	0.0:1.0:0.0:0.0	.	470;430;470;470	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	470;430;470;470	ENSP00000357910:E470K;ENSP00000357908:E430K;ENSP00000357909:E470K;ENSP00000344148:E470K	ENSP00000344148:E470K	E	-	1	0	SEMA6C	149374716	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.911000	0.69939	2.215000	0.71742	0.561000	0.74099	GAG	SEMA6C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.602	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	C	NM_030913		151108092	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	T
SENP2	59343	genome.wustl.edu	37	3	185329515	185329515	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:185329515C>G	ENST00000296257.5	+	8	1039	c.799C>G	c.(799-801)Cag>Gag	p.Q267E	SENP2_ENST00000427465.2_Missense_Mutation_p.Q91E|SENP2_ENST00000545472.1_Missense_Mutation_p.Q257E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	267					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAAAACAACTCAGTTTGTTCC	0.383																																																	0													89.0	93.0	92.0					3																	185329515		2203	4300	6503	SO:0001583	missense	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.799C>G	3.37:g.185329515C>G	ENSP00000296257:p.Gln267Glu		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q267E	ENST00000296257.5	37	c.799	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262645	0.39995	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.23950	1.88;1.89;1.96	6.15	6.15	0.99193	.	0.771066	0.11874	N	0.521146	T	0.15652	0.0377	N	0.14661	0.345	0.25967	N	0.982548	B;B	0.28055	0.199;0.044	B;B	0.25506	0.061;0.036	T	0.08889	-1.0700	10	0.02654	T	1	-3.5003	16.3388	0.83075	0.0:1.0:0.0:0.0	.	257;267	B4DQ42;Q9HC62	.;SENP2_HUMAN	E	257;267;138;91	ENSP00000439653:Q257E;ENSP00000296257:Q267E;ENSP00000394562:Q91E	ENSP00000296257:Q267E	Q	+	1	0	SENP2	186812209	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.363000	0.44178	2.932000	0.99384	0.643000	0.83706	CAG	SENP2	-	NULL		0.383	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	C	NM_021627		185329515	+1	no_errors	ENST00000296257	ensembl	human	known	70_37	missense	SNP	1.000	G
SERPINB7	8710	genome.wustl.edu	37	18	61468247	61468247	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:61468247G>T	ENST00000398019.2	+	7	1069		c.e7+1		SERPINB7_ENST00000336429.2_Splice_Site|SERPINB7_ENST00000540675.1_Splice_Site|SERPINB7_ENST00000546027.1_Splice_Site	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTCTCTGAAGTAAGTTACGA	0.373																																																	0													147.0	140.0	142.0					18																	61468247		2203	4300	6503	SO:0001630	splice_region_variant	8710			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.744+1G>T	18.37:g.61468247G>T			B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Splice_Site	SNP	-	e6+1	ENST00000398019.2	37	c.744+1	CCDS11988.1	18	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508523	0.27036	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6127	0.68526	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB7	59619227	1.000000	0.71417	0.979000	0.43373	0.085000	0.17905	4.871000	0.63042	2.590000	0.87494	0.650000	0.86243	.	SERPINB7	-	-		0.373	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB7	HGNC	protein_coding	OTTHUMT00000134007.1	G	NM_003784	Intron	61468247	+1	no_errors	ENST00000336429	ensembl	human	known	70_37	splice_site	SNP	0.994	T
SEZ6L2	26470	genome.wustl.edu	37	16	29910335	29910335	+	Silent	SNP	C	C	T	rs149205260		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:29910335C>T	ENST00000308713.5	-	1	533	c.6G>A	c.(4-6)ggG>ggA	p.G2G	SEZ6L2_ENST00000562159.1_5'Flank|ASPHD1_ENST00000483405.1_5'Flank|ASPHD1_ENST00000308748.5_5'Flank|SEZ6L2_ENST00000346932.5_Silent_p.G2G|SEZ6L2_ENST00000350527.3_Silent_p.G2G|SEZ6L2_ENST00000537485.1_Silent_p.G2G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	2					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGGGAGTCCCCATGGCGA	0.572																																																	0								C	,,,	1,4391	2.1+/-5.4	0,1,2195	22.0	26.0	25.0		6,6,6,6	3.6	1.0	16	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,,,	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	,,,	2/841,2/810,2/854,2/911	29910335	1,12989	2196	4299	6495	SO:0001819	synonymous_variant	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.6G>A	16.37:g.29910335C>T			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G2	ENST00000308713.5	37	c.6	CCDS10659.1	16																																																																																			SEZ6L2	-	NULL		0.572	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	C	NM_012410		29910335	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	silent	SNP	1.000	T
SH2D5	400745	genome.wustl.edu	37	1	21050664	21050664	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:21050664C>G	ENST00000444387.2	-	7	1108	c.711G>C	c.(709-711)aaG>aaC	p.K237N	SH2D5_ENST00000375031.1_Missense_Mutation_p.K153N|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	237										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATGGCCTTCTTGCGCACCA	0.677																																																	0													55.0	64.0	61.0					1																	21050664		2099	4204	6303	SO:0001583	missense	400745			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.711G>C	1.37:g.21050664C>G	ENSP00000406026:p.Lys237Asn		B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2	p.K237N	ENST00000444387.2	37	c.711	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035350	0.93630	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.93	0.64822	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	L	0.56769	1.78	0.50313	D	0.999865	D	0.89917	1.0	D	0.91635	0.999	T	0.78031	-0.2363	9	0.62326	D	0.03	.	17.0652	0.86557	0.0:1.0:0.0:0.0	.	237	Q6ZV89	SH2D5_HUMAN	N	153;237	.	ENSP00000364171:K153N	K	-	3	2	SH2D5	20923251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.012000	0.29924	2.569000	0.86673	0.563000	0.77884	AAG	SH2D5	-	NULL		0.677	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	C	XM_375698		21050664	-1	no_errors	ENST00000444387	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC10A3	8273	genome.wustl.edu	37	X	153716084	153716084	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:153716084A>G	ENST00000393587.4	-	3	1459	c.1196T>C	c.(1195-1197)gTg>gCg	p.V399A	SLC10A3_ENST00000393586.1_Missense_Mutation_p.V454A|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.V370A|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.V399A|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	399					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTAGCCCACCAACAGGCC	0.637																																																	0													50.0	40.0	43.0					X																	153716084		2203	4299	6502	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1196T>C	X.37:g.153716084A>G	ENSP00000377212:p.Val399Ala		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.V399A	ENST00000393587.4	37	c.1196	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483162	0.26598	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.09073	3.11;3.02;3.05;3.05	5.26	4.11	0.48088	.	0.171966	0.38217	U	0.001771	T	0.04452	0.0122	N	0.10733	0.035	0.34962	D	0.752294	B;B	0.27140	0.169;0.1	B;B	0.25987	0.065;0.065	T	0.32188	-0.9916	10	0.41790	T	0.15	-19.2855	8.744	0.34575	0.9079:0.0:0.0921:0.0	.	370;399	Q9BSL2;P09131	.;P3_HUMAN	A	370;454;399;399	ENSP00000358663:V370A;ENSP00000377211:V454A;ENSP00000263512:V399A;ENSP00000377212:V399A	ENSP00000263512:V399A	V	-	2	0	SLC10A3	153369278	1.000000	0.71417	0.998000	0.56505	0.399000	0.30720	4.313000	0.59160	1.749000	0.51849	0.486000	0.48141	GTG	SLC10A3	-	tigrfam_Bil_ac_transpt		0.637	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	A	NM_019848		153716084	-1	no_errors	ENST00000263512	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC14A2	8170	genome.wustl.edu	37	18	43223998	43223998	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr18:43223998C>G	ENST00000255226.6	+	10	2040	c.1224C>G	c.(1222-1224)atC>atG	p.I408M	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.I408M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	408					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACCATCATCTTCCTGCTCC	0.542																																																	0													184.0	176.0	179.0					18																	43223998		2203	4300	6503	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1224C>G	18.37:g.43223998C>G	ENSP00000255226:p.Ile408Met		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.I408M	ENST00000255226.6	37	c.1224	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433385	0.62844	.	.	ENSG00000132874	ENST00000255226	T	0.35973	1.28	5.56	4.51	0.55191	.	0.473271	0.23668	N	0.045747	T	0.38772	0.1053	L	0.56280	1.765	0.80722	D	1	P	0.39022	0.655	B	0.43508	0.422	T	0.28650	-1.0037	10	0.62326	D	0.03	-9.196	10.9748	0.47459	0.1326:0.7893:0.0:0.078	.	408	Q15849	UT2_HUMAN	M	408	ENSP00000255226:I408M	ENSP00000255226:I408M	I	+	3	3	SLC14A2	41477996	0.762000	0.28451	1.000000	0.80357	0.989000	0.77384	0.979000	0.29500	2.629000	0.89072	0.655000	0.94253	ATC	SLC14A2	-	pfam_Urea_transporter		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C			43223998	+1	no_errors	ENST00000255226	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC26A3	1811	genome.wustl.edu	37	7	107431506	107431506	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:107431506G>C	ENST00000340010.5	-	5	741	c.557C>G	c.(556-558)tCt>tGt	p.S186C	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S151C	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	186					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATGATTCCAGAAAGCACTGT	0.488																																																	0													71.0	61.0	64.0					7																	107431506		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.557C>G	7.37:g.107431506G>C	ENSP00000345873:p.Ser186Cys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S186C	ENST00000340010.5	37	c.557	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136460	0.37728	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93859	-3.28;-3.3	5.69	3.83	0.44106	.	0.673209	0.15187	N	0.275758	D	0.94440	0.8211	L	0.46157	1.445	0.31216	N	0.698015	D;P	0.57571	0.98;0.944	P;B	0.58820	0.846;0.401	D	0.92301	0.5849	10	0.44086	T	0.13	.	16.065	0.80865	0.0:0.2538:0.7462:0.0	.	151;186	G5E9U3;P40879	.;S26A3_HUMAN	C	151;186	ENSP00000415817:S151C;ENSP00000345873:S186C	ENSP00000345873:S186C	S	-	2	0	SLC26A3	107218742	1.000000	0.71417	0.978000	0.43139	0.056000	0.15407	5.233000	0.65337	0.713000	0.32060	0.591000	0.81541	TCT	SLC26A3	-	tigrfam_SulP_transpt		0.488	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	G	NM_000111		107431506	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.982	C
SLC26A3	1811	genome.wustl.edu	37	7	107431638	107431638	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:107431638G>A	ENST00000340010.5	-	5	609	c.425C>T	c.(424-426)tCa>tTa	p.S142L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S107L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	142					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AACTGCTCCTGAAACTGCTAG	0.448																																																	0													195.0	171.0	179.0					7																	107431638		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.425C>T	7.37:g.107431638G>A	ENSP00000345873:p.Ser142Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S142L	ENST00000340010.5	37	c.425	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	7.142	0.582048	0.13749	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93547	-3.23;-3.24	3.51	-7.02	0.01589	.	0.172647	0.50627	D	0.000115	T	0.79137	0.4395	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.66674	-0.5864	10	0.22109	T	0.4	.	9.3199	0.37957	0.3626:0.0:0.5314:0.106	.	107;142	G5E9U3;P40879	.;S26A3_HUMAN	L	107;142	ENSP00000415817:S107L;ENSP00000345873:S142L	ENSP00000345873:S142L	S	-	2	0	SLC26A3	107218874	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.400000	0.07241	-1.643000	0.01519	-1.842000	0.00583	TCA	SLC26A3	-	tigrfam_SulP_transpt		0.448	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	G	NM_000111		107431638	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC4A4	8671	genome.wustl.edu	37	4	72433560	72433560	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:72433560G>C	ENST00000264485.5	+	0	3449				SLC4A4_ENST00000340595.3_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E1079Q|SLC4A4_ENST00000351898.6_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACTTGAACCTGAAGACAATGA	0.328																																																	0													67.0	60.0	62.0					4																	72433560		1559	3571	5130	SO:0001624	3_prime_UTR_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.*92G>C	4.37:g.72433560G>C			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E1079Q	ENST00000264485.5	37	c.3235	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098070	0.56183	.	.	ENSG00000080493	ENST00000425175	T	0.79141	-1.24	5.62	5.62	0.85841	.	.	.	.	.	T	0.68522	0.3010	N	0.22421	0.69	0.40867	D	0.98388	B	0.31318	0.319	B	0.28784	0.094	T	0.67063	-0.5765	9	0.42905	T	0.14	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	1079	A5JJ20	.	Q	1079	ENSP00000393557:E1079Q	ENSP00000393557:E1079Q	E	+	1	0	SLC4A4	72652424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.386000	0.97228	2.814000	0.96858	0.585000	0.79938	GAA	SLC4A4	-	NULL		0.328	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72433560	+1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC5A6	8884	genome.wustl.edu	37	2	27429780	27429780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:27429780G>A	ENST00000310574.3	-	4	897	c.424C>T	c.(424-426)Cga>Tga	p.R142*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.R142*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	142					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CCACACACTCGCACAGTTTTA	0.463																																																	0													243.0	246.0	245.0					2																	27429780		2203	4300	6503	SO:0001587	stop_gained	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.424C>T	2.37:g.27429780G>A	ENSP00000310208:p.Arg142*		B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R142*	ENST00000310574.3	37	c.424	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464243	0.63513	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463	.	.	.	5.94	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7837	0.52030	0.0:0.0:0.6804:0.3196	.	.	.	.	X	142	.	ENSP00000310208:R142X	R	-	1	2	SLC5A6	27283284	1.000000	0.71417	0.190000	0.23270	0.003000	0.03518	5.003000	0.63959	0.804000	0.34136	0.563000	0.77884	CGA	SLC5A6	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.463	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27429780	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLC6A3	6531	genome.wustl.edu	37	5	1409223	1409223	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:1409223G>A	ENST00000270349.9	-	11	1543	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	SLC6A3_ENST00000453492.2_Silent_p.F472F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	472					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAGGAGCGTGAAGACGTAGA	0.582																																																	0													57.0	49.0	52.0					5																	1409223		2201	4297	6498	SO:0001819	synonymous_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1416C>T	5.37:g.1409223G>A			A2RUN4|Q14996	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.F472	ENST00000270349.9	37	c.1416	CCDS3863.1	5																																																																																			SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	G	NM_001044		1409223	-1	no_errors	ENST00000270349	ensembl	human	known	70_37	silent	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168098381	168098381	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:168098381C>T	ENST00000519560.1	-	34	4368	c.3949G>A	c.(3949-3951)Gac>Aac	p.D1317N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D1324N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1317N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1317	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTTGAAGTCCTGCAGCTCG	0.657																																					Ovarian(29;311 847 10864 17279 24903)												0													56.0	47.0	50.0					5																	168098381		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3949G>A	5.37:g.168098381C>T	ENSP00000430333:p.Asp1317Asn		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1317N	ENST00000519560.1	37	c.3949	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.328850	0.95733	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.71817	-0.6;-0.6;-0.6	4.86	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.74389	2.26	0.80722	D	1	D	0.60160	0.987	P	0.61940	0.896	D	0.85542	0.1216	10	0.87932	D	0	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	1317	O75094	SLIT3_HUMAN	N	1317;1324;1317	ENSP00000430333:D1317N;ENSP00000332164:D1324N;ENSP00000384890:D1317N	ENSP00000332164:D1324N	D	-	1	0	SLIT3	168030959	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.927000	0.63440	2.404000	0.81709	0.462000	0.41574	GAC	SLIT3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168098381	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAD3	4088	genome.wustl.edu	37	15	67457410	67457410	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:67457410G>C	ENST00000327367.4	+	2	694	c.384G>C	c.(382-384)caG>caC	p.Q128H	SMAD3_ENST00000540846.2_Missense_Mutation_p.Q23H|SMAD3_ENST00000439724.3_Missense_Mutation_p.Q84H|SMAD3_ENST00000537194.2_5'Flank	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	128	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCACTACCAGAGAGTAGAGA	0.617																																																	0													74.0	73.0	73.0					15																	67457410		2201	4299	6500	SO:0001583	missense	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.384G>C	15.37:g.67457410G>C	ENSP00000332973:p.Gln128His		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q128H	ENST00000327367.4	37	c.384	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009961	0.54361	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724	T;T;T	0.77489	-1.1;-1.1;-1.1	4.39	4.39	0.52855	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.058311	0.64402	D	0.000001	T	0.81336	0.4801	L	0.60455	1.87	0.80722	D	1	P;P	0.45531	0.86;0.708	P;P	0.54590	0.756;0.528	T	0.82577	-0.0388	10	0.66056	D	0.02	.	10.5336	0.44992	0.1425:0.0:0.8575:0.0	.	84;128	B7Z4Z5;P84022	.;SMAD3_HUMAN	H	128;128;23;84	ENSP00000332973:Q128H;ENSP00000437757:Q23H;ENSP00000401133:Q84H	ENSP00000332973:Q128H	Q	+	3	2	SMAD3	65244464	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.570000	0.53834	2.270000	0.75569	0.561000	0.74099	CAG	SMAD3	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.617	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	G	NM_005902		67457410	+1	no_errors	ENST00000327367	ensembl	human	known	70_37	missense	SNP	1.000	C
SMARCB1	6598	genome.wustl.edu	37	22	24129408	24129408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:24129408C>T	ENST00000263121.7	+	1	248	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q18*|SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q18*|SMARCB1_ENST00000344921.6_Nonsense_Mutation_p.Q18*	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	18					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTGAAGTTCCAGCTGGAGGA	0.716			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	2	Unknown(2)	soft_tissue(2)											47.0	53.0	51.0					22																	24129408		2202	4300	6502	SO:0001587	stop_gained	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.52C>T	22.37:g.24129408C>T	ENSP00000263121:p.Gln18*		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Nonsense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.Q18*	ENST00000263121.7	37	c.52	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.543051	0.98348	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	.	.	.	3.41	3.41	0.39046	.	0.058524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.5406	15.1064	0.72324	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000263121:Q18X	Q	+	1	0	SMARCB1	22459408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.775000	0.75018	2.214000	0.71695	0.478000	0.44815	CAG	SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx		0.716	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	C	NM_003073		24129408	+1	no_errors	ENST00000263121	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SMOC2	64094	genome.wustl.edu	37	6	169051402	169051402	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:169051402C>G	ENST00000356284.2	+	10	1169	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	SMOC2_ENST00000354536.5_Missense_Mutation_p.L328V	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	317					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GACCAGCGTTCTGGACGCGCT	0.527																																																	0													69.0	57.0	61.0					6																	169051402		2203	4300	6503	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.949C>G	6.37:g.169051402C>G	ENSP00000348630:p.Leu317Val		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.L328V	ENST00000356284.2	37	c.982	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254582	0.22965	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.38077	1.18;1.16	4.11	2.3	0.28687	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000045	T	0.26340	0.0643	L	0.36672	1.1	0.22666	N	0.998879	P;D	0.76494	0.793;0.999	P;D	0.79784	0.705;0.993	T	0.06752	-1.0809	10	0.37606	T	0.19	-5.4836	6.4087	0.21678	0.0:0.5769:0.0:0.4231	.	317;328	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	V	317;328;317	ENSP00000348630:L317V;ENSP00000346537:L328V	ENSP00000346537:L328V	L	+	1	2	SMOC2	168793327	0.026000	0.19158	0.355000	0.25773	0.074000	0.17049	0.242000	0.18087	0.317000	0.23160	0.455000	0.32223	CTG	SMOC2	-	pfam_SPARC/Testican_Ca-bd-dom		0.527	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	C			169051402	+1	no_errors	ENST00000354536	ensembl	human	known	70_37	missense	SNP	0.382	G
SNCAIP	9627	genome.wustl.edu	37	5	121786950	121786950	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:121786950C>T	ENST00000261368.8	+	10	2670	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SNCAIP_ENST00000379538.3_Missense_Mutation_p.S437F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S361F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S850F|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S743F|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S850F|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S405F|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	803					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGTCTCCATCTTCCAAGCGT	0.527																																																	0													59.0	60.0	60.0					5																	121786950		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2408C>T	5.37:g.121786950C>T	ENSP00000261368:p.Ser803Phe		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S850F	ENST00000261368.8	37	c.2549	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465180	0.84425	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.30981	3.4;4.06;1.66;1.51;4.05;3.81;1.51;3.57	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;0.999;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.991;0.998;0.982;0.997;0.992;0.992;0.991	T	0.55749	-0.8092	10	0.87932	D	0	-13.9986	20.2192	0.98319	0.0:1.0:0.0:0.0	.	743;431;405;743;437;437;850;803	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	F	361;743;803;850;743;437;850;405	ENSP00000441681:S361F;ENSP00000422106:S743F;ENSP00000261368:S803F;ENSP00000368848:S850F;ENSP00000368851:S743F;ENSP00000368854:S437F;ENSP00000261367:S850F;ENSP00000394392:S405F	ENSP00000261367:S850F	S	+	2	0	SNCAIP	121814849	1.000000	0.71417	0.927000	0.36925	0.970000	0.65996	7.497000	0.81536	2.780000	0.95670	0.655000	0.94253	TCT	SNCAIP	-	NULL		0.527	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	C			121786950	+1	no_errors	ENST00000379533	ensembl	human	known	70_37	missense	SNP	1.000	T
SNHG24	101929369	genome.wustl.edu	37	14	101449326	101449326	+	lincRNA	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:101449326G>A	ENST00000554693.2	+	0	717				SNORD114-20_ENST00000365178.1_RNA|SNORD113_ENST00000364840.1_RNA|SNORD114-22_ENST00000365423.1_RNA|SNORD114-23_ENST00000363536.1_RNA|SNORD114-24_ENST00000365029.1_RNA|SNORD114-21_ENST00000606412.1_RNA																							TTGGAACTCTGAGGTCCATCA	0.373																																																	0													155.0	142.0	146.0					14																	101449326		876	1991	2867			767600																															14.37:g.101449326G>A				RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			SNORD114-22	-	-		0.373	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-22	HGNC	lincRNA	OTTHUMT00000468646.1	G			101449326	+1	no_errors	ENST00000365423	ensembl	human	known	70_37	rna	SNP	0.005	A
SNX1	6642	genome.wustl.edu	37	15	64404874	64404874	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:64404874C>G	ENST00000559844.1	+	2	276	c.262C>G	c.(262-264)Ctc>Gtc	p.L88V	SNX1_ENST00000561026.1_Missense_Mutation_p.L88V|SNX1_ENST00000261889.5_Missense_Mutation_p.L88V|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.L88V|Y_RNA_ENST00000364201.1_RNA			Q13596	SNX1_HUMAN	sorting nexin 1	88					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACAGGATCTCTTTGCAGG	0.383																																																	0													72.0	66.0	68.0					15																	64404874		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.262C>G	15.37:g.64404874C>G	ENSP00000453785:p.Leu88Val		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L88V	ENST00000559844.1	37	c.262	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578395	0.65878	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.64991	-0.13;-0.13;-0.13	5.66	5.66	0.87406	.	0.776462	0.11700	N	0.538074	T	0.71829	0.3386	L	0.55990	1.75	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.974;0.962;0.998	D;D;P;P	0.67725	0.941;0.953;0.611;0.901	T	0.62784	-0.6781	10	0.02654	T	1	-5.3729	16.4602	0.84033	0.0:1.0:0.0:0.0	.	88;88;88;88	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	V	88	ENSP00000369638:L88V;ENSP00000326668:L88V;ENSP00000261889:L88V	ENSP00000261889:L88V	L	+	1	0	SNX1	62191927	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.228000	0.58619	2.670000	0.90874	0.561000	0.74099	CTC	SNX1	-	pfam_Sorting_nexin_N		0.383	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	C	NM_003099		64404874	+1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX13	23161	genome.wustl.edu	37	7	17979955	17979955	+	5'UTR	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:17979955C>T	ENST00000409389.1	-	0	136				SNX13_ENST00000409604.1_5'UTR|SNX13_ENST00000428135.3_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCCTAGCCTCGCCTCATGGC	0.617																																																	0													17.0	21.0	19.0					7																	17979955		1811	3973	5784	SO:0001623	5_prime_UTR_variant	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.-37G>A	7.37:g.17979955C>T			B2RCI9|O94821|Q8WVZ2|Q8WXH8	RNA	SNP	-	NULL	ENST00000409389.1	37	NULL		7																																																																																			SNX13	-	-		0.617	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	C	NM_015132		17979955	-1	no_errors	ENST00000471744	ensembl	human	known	70_37	rna	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121391423	121391423	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:121391423C>G	ENST00000260197.7	+	9	1398	c.1269C>G	c.(1267-1269)gtC>gtG	p.V423V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	423					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCAAGGAGTCTACATTGCTA	0.413																																																	0													71.0	71.0	71.0					11																	121391423		2203	4299	6502	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1269C>G	11.37:g.121391423C>G			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V423	ENST00000260197.7	37	c.1269	CCDS8436.1	11																																																																																			SORL1	-	smart_VPS10		0.413	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121391423	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	silent	SNP	0.653	G
SOX15	6665	genome.wustl.edu	37	17	7492582	7492582	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:7492582C>T	ENST00000250055.2	-	1	906	c.413G>A	c.(412-414)aGa>aAa	p.R138K	SOX15_ENST00000538513.2_Missense_Mutation_p.R138K|SOX15_ENST00000570788.1_Missense_Mutation_p.R138K|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'Flank	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	138					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CAGGTTGCCTCTTCCCTGTCC	0.711											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8.0	7.0	7.0					17																	7492582		2143	4174	6317	SO:0001583	missense	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"""SRY (sex determining region Y)-boxes"""	11196	protein-coding gene	gene with protein product		601297	"""SRY (sex determining region Y)-box 20"""	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.413G>A	17.37:g.7492582C>T	ENSP00000355354:p.Arg138Lys	642	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R138K	ENST00000250055.2	37	c.413	CCDS32549.1	17	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076941	0.36662	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.95103	-3.61;-3.61	5.27	3.29	0.37713	.	2.700690	0.01100	N	0.005354	D	0.86636	0.5980	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.78112	-0.2331	10	0.06891	T	0.86	.	7.2246	0.26007	0.0:0.7293:0.0:0.2707	.	138	O60248	SOX15_HUMAN	K	138	ENSP00000355354:R138K;ENSP00000439311:R138K	ENSP00000355354:R138K	R	-	2	0	SOX15	7433306	0.000000	0.05858	0.113000	0.21522	0.542000	0.35054	0.214000	0.17541	0.635000	0.30488	0.555000	0.69702	AGA	SOX15	-	NULL		0.711	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	C	NM_006942		7492582	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	missense	SNP	0.000	T
SOX6	55553	genome.wustl.edu	37	11	16119218	16119218	+	Silent	SNP	T	T	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:16119218T>C	ENST00000352083.6	-	8	992	c.915A>G	c.(913-915)gtA>gtG	p.V305V	SOX6_ENST00000316399.6_Silent_p.V305V|SOX6_ENST00000528429.1_Silent_p.V305V|SOX6_ENST00000396356.3_Silent_p.V305V|SOX6_ENST00000527619.1_Silent_p.V308V|SOX6_ENST00000528252.1_Silent_p.V305V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	305					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAATGAACTGTACGGGGTAGT	0.468																																																	0													113.0	111.0	111.0					11																	16119218		2200	4294	6494	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.915A>G	11.37:g.16119218T>C			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V305	ENST00000352083.6	37	c.915		11																																																																																			SOX6	-	NULL		0.468	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	T	NM_033326		16119218	-1	no_errors	ENST00000352083	ensembl	human	known	70_37	silent	SNP	1.000	C
SPATA31D1	389763	genome.wustl.edu	37	9	84607470	84607470	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:84607470C>T	ENST00000344803.2	+	4	2132	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	695					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAGGAGGCTCATCCAGCGCA	0.493																																																	0													84.0	80.0	81.0					9																	84607470		1863	4085	5948	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2085C>T	9.37:g.84607470C>T				Silent	SNP	NULL	p.L695	ENST00000344803.2	37	c.2085	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84607470	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	silent	SNP	0.007	T
SPEF2	79925	genome.wustl.edu	37	5	35646907	35646907	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:35646907G>A	ENST00000356031.3	+	5	878	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	SPEF2_ENST00000282469.6_Missense_Mutation_p.E242K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E242K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E242K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	242					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGAGGCAGAAGTAAGTGA	0.343																																																	0													49.0	52.0	51.0					5																	35646907		2203	4299	6502	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.724G>A	5.37:g.35646907G>A	ENSP00000348314:p.Glu242Lys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E242K	ENST00000356031.3	37	c.724	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802372	0.70682	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.36340	2.24;3.3;2.24;1.26;3.3	5.46	5.46	0.80206	.	0.339124	0.35262	N	0.003334	T	0.42086	0.1187	L	0.52364	1.645	0.80722	D	1	P;P;P	0.45531	0.666;0.666;0.86	B;B;P	0.44561	0.194;0.194;0.453	T	0.26643	-1.0097	10	0.49607	T	0.09	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	242;242;242	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	242;242;242;185;242	ENSP00000282469:E242K;ENSP00000348314:E242K;ENSP00000421593:E242K;ENSP00000426259:E185K;ENSP00000412125:E242K	ENSP00000282469:E242K	E	+	1	0	SPEF2	35682664	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.238000	0.58688	2.736000	0.93811	0.655000	0.94253	GAA	SPEF2	-	NULL		0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35646907	+1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131362259	131362259	+	Intron	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:131362259G>A	ENST00000372731.4	+	27	3653				SPTAN1_ENST00000372739.3_Intron|SPTAN1_ENST00000358161.5_Intron	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGTATCTGGGATCTCCCCTG	0.428																																					NSCLC(120;833 1744 2558 35612 37579)												0																																										SO:0001627	intron_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3544-100G>A	9.37:g.131362259G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	RNA	SNP	-	NULL	ENST00000372731.4	37	NULL	CCDS6905.1	9																																																																																			SPTAN1	-	-		0.428	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131362259	+1	no_errors	ENST00000461855	ensembl	human	known	70_37	rna	SNP	0.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131362362	131362362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:131362362delG	ENST00000372731.4	+	27	3657	c.3547delG	c.(3547-3549)gaafs	p.E1183fs	SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.E1183fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1183fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAATAGGATGAAACTGATTC	0.438																																					NSCLC(120;833 1744 2558 35612 37579)												0													124.0	114.0	117.0					9																	131362362		2203	4300	6503	SO:0001589	frameshift_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3547delG	9.37:g.131362362delG	ENSP00000361816:p.Glu1183fs		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E1183fs	ENST00000372731.4	37	c.3547	CCDS6905.1	9																																																																																			SPTAN1	-	smart_Spectrin/alpha-actinin		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131362362	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SPTBN1	6711	genome.wustl.edu	37	2	54864866	54864866	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:54864866G>C	ENST00000356805.4	+	18	4065	c.3784G>C	c.(3784-3786)Gag>Cag	p.E1262Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1249Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1262					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAGAATCGTGAGACAGCCAG	0.328																																																	0													138.0	138.0	138.0					2																	54864866		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3784G>C	2.37:g.54864866G>C	ENSP00000349259:p.Glu1262Gln		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	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.E1262Q	ENST00000356805.4	37	c.3784	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589117	0.46110	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.35421	1.31;1.31	5.67	5.67	0.87782	.	0.232645	0.42964	D	0.000638	T	0.36138	0.0956	L	0.39514	1.22	0.38931	D	0.957951	B;B	0.12630	0.004;0.006	B;B	0.25759	0.025;0.063	T	0.10917	-1.0609	10	0.32370	T	0.25	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	1249;1262	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	1262;1249	ENSP00000349259:E1262Q;ENSP00000334156:E1249Q	ENSP00000334156:E1249Q	E	+	1	0	SPTBN1	54718370	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.671000	0.74472	2.697000	0.92050	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.328	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54864866	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	0.998	C
STRADA	92335	genome.wustl.edu	37	17	61800729	61800729	+	Intron	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:61800729G>A	ENST00000336174.6	-	4	207				STRADA_ENST00000579340.1_Intron|STRADA_ENST00000245865.5_Intron|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000375840.4_Intron|STRADA_ENST00000392950.4_Intron|STRADA_ENST00000582137.1_Intron|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000580039.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha						activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TGTTTTAGCAGAAGACACACC	0.433																																																	0													127.0	109.0	115.0					17																	61800729		2203	4300	6503	SO:0001627	intron_variant	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.95-43C>T	17.37:g.61800729G>A			B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	RNA	SNP	-	NULL	ENST00000336174.6	37	NULL	CCDS32703.1	17																																																																																			STRADA	-	-		0.433	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	G			61800729	-1	no_errors	ENST00000580039	ensembl	human	known	70_37	rna	SNP	0.989	A
STRN4	29888	genome.wustl.edu	37	19	47225314	47225314	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:47225314G>C	ENST00000263280.6	-	16	2070	c.2021C>G	c.(2020-2022)tCc>tGc	p.S674C	STRN4_ENST00000391910.3_Missense_Mutation_p.S681C|STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	674						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCAACCATGGAGTGCACCGG	0.617																																																	0													101.0	93.0	96.0					19																	47225314		2203	4300	6503	SO:0001583	missense	29888			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2021C>G	19.37:g.47225314G>C	ENSP00000263280:p.Ser674Cys		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S681C	ENST00000263280.6	37	c.2042	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816437	0.90790	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.61392	0.11;0.11;0.11	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.75048	-0.3455	10	0.87932	D	0	-29.8844	17.2132	0.86936	0.0:0.0:1.0:0.0	.	681;674	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	681;674;555	ENSP00000375777:S681C;ENSP00000263280:S674C;ENSP00000440901:S555C	ENSP00000263280:S674C	S	-	2	0	STRN4	51917154	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.310000	0.96267	2.606000	0.88127	0.561000	0.74099	TCC	STRN4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.617	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	G			47225314	-1	no_errors	ENST00000391910	ensembl	human	known	70_37	missense	SNP	1.000	C
STX11	8676	genome.wustl.edu	37	6	144507888	144507888	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:144507888G>C	ENST00000367568.4	+	2	307	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	42					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCACATCCTGGAGTCCCTGTA	0.582									Familial Hemophagocytic Lymphohistiocytosis																																								0													54.0	48.0	50.0					6																	144507888		2203	4300	6503	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.124G>C	6.37:g.144507888G>C	ENSP00000356540:p.Glu42Gln		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E42Q	ENST00000367568.4	37	c.124	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034510	0.75617	.	.	ENSG00000135604	ENST00000367568	T	0.22945	1.93	5.85	4.06	0.47325	t-SNARE (1);Syntaxin, N-terminal (1);	0.152576	0.56097	N	0.000021	T	0.34832	0.0911	M	0.83953	2.67	0.43485	D	0.995714	P	0.42871	0.792	P	0.50537	0.643	T	0.39313	-0.9620	10	0.66056	D	0.02	-25.3192	16.4053	0.83662	0.0:0.2483:0.7517:0.0	.	42	O75558	STX11_HUMAN	Q	42	ENSP00000356540:E42Q	ENSP00000356540:E42Q	E	+	1	0	STX11	144549581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.784000	0.55416	0.791000	0.33826	0.561000	0.74099	GAG	STX11	-	superfamily_t-SNARE,smart_Syntaxin_N		0.582	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	G			144507888	+1	no_errors	ENST00000367568	ensembl	human	known	70_37	missense	SNP	1.000	C
STX5	6811	genome.wustl.edu	37	11	62592575	62592575	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:62592575C>G	ENST00000294179.3	-	8	765	c.612G>C	c.(610-612)caG>caC	p.Q204H	STX5_ENST00000541317.1_Missense_Mutation_p.Q108H|STX5_ENST00000394690.1_Missense_Mutation_p.Q150H|STX5_ENST00000377897.4_Missense_Mutation_p.Q204H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	204					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCGGCTCCTCTGCTGCTTCA	0.587																																																	0													46.0	53.0	50.0					11																	62592575		2201	4299	6500	SO:0001583	missense	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.612G>C	11.37:g.62592575C>G	ENSP00000294179:p.Gln204His		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.Q204H	ENST00000294179.3	37	c.612	CCDS8038.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.175199|3.175199	0.57692|0.57692	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.24538|.	1.85;1.85;1.85;1.85|.	5.41|5.41	4.5|4.5	0.54988|0.54988	t-SNARE (1);|.	0.123240|.	0.64402|.	D|.	0.000008|.	T|T	0.77164|0.77164	0.4090|0.4090	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.979|.	T|T	0.80065|0.80065	-0.1538|-0.1538	10|5	0.44086|.	T|.	0.13|.	-3.9175|-3.9175	11.965|11.965	0.53029|0.53029	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	204;204|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	H|T	204;204;150;108|59	ENSP00000367129:Q204H;ENSP00000294179:Q204H;ENSP00000378182:Q150H;ENSP00000441428:Q108H|.	ENSP00000294179:Q204H|.	Q|R	-|-	3|2	2|0	STX5|STX5	62349151|62349151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	3.562000|3.562000	0.53777|0.53777	1.533000|1.533000	0.49186|0.49186	-0.140000|-0.140000	0.14226|0.14226	CAG|AGA	STX5	-	superfamily_t-SNARE		0.587	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX5	HGNC	protein_coding	OTTHUMT00000290113.1	C	NM_003164		62592575	-1	no_errors	ENST00000294179	ensembl	human	known	70_37	missense	SNP	1.000	G
SUPV3L1	6832	genome.wustl.edu	37	10	70940132	70940132	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:70940132C>T	ENST00000359655.4	+	1	145	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	29					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTGCCCTTCGTCCCCACTT	0.657																																																	0													40.0	44.0	43.0					10																	70940132		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.85C>T	10.37:g.70940132C>T	ENSP00000352678:p.Arg29Cys		A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.R29C	ENST00000359655.4	37	c.85	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355291	0.61293	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.36520	1.37;1.25	5.78	3.88	0.44766	.	0.066963	0.64402	D	0.000013	T	0.36552	0.0971	L	0.38175	1.15	0.34448	D	0.700332	D	0.76494	0.999	P	0.47528	0.549	T	0.54754	-0.8246	10	0.87932	D	0	-2.0748	15.1412	0.72612	0.0:0.5107:0.4893:0.0	.	29	Q8IYB8	SUV3_HUMAN	C	29	ENSP00000352678:R29C;ENSP00000409072:R29C	ENSP00000352678:R29C	R	+	1	0	SUPV3L1	70610138	0.846000	0.29590	0.185000	0.23176	0.518000	0.34316	0.862000	0.27899	0.740000	0.32651	0.655000	0.94253	CGT	SUPV3L1	-	NULL		0.657	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	C	NM_003171		70940132	+1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.490	T
SYNE1	23345	genome.wustl.edu	37	6	152615141	152615141	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:152615141G>T	ENST00000367255.5	-	94	18405	c.17804C>A	c.(17803-17805)gCc>gAc	p.A5935D	SYNE1_ENST00000423061.1_Missense_Mutation_p.A5864D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5547D|SYNE1_ENST00000356820.4_Missense_Mutation_p.A459D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5935D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5864D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5935					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCCAGTTTGGCAGTAGCGGA	0.498										HNSCC(10;0.0054)																																							0													97.0	93.0	94.0					6																	152615141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17804C>A	6.37:g.152615141G>T	ENSP00000356224:p.Ala5935Asp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A5935D	ENST00000367255.5	37	c.17804	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725098	0.89298	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000229	T	0.49508	0.1561	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.979;0.999;0.999;0.999	P;D;D;D	0.72625	0.802;0.952;0.952;0.978	T	0.51268	-0.8727	10	0.49607	T	0.09	.	17.5409	0.87848	0.0:0.0:1.0:0.0	.	350;5935;5935;5864	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	5935;5864;5935;5864;5547;459;110;157	ENSP00000356224:A5935D;ENSP00000396024:A5864D;ENSP00000265368:A5935D;ENSP00000390975:A5864D;ENSP00000341887:A5547D;ENSP00000349276:A459D;ENSP00000437411:A110D	ENSP00000265368:A5935D	A	-	2	0	SYNE1	152656834	1.000000	0.71417	0.930000	0.37139	0.968000	0.65278	9.420000	0.97426	2.188000	0.69820	0.655000	0.94253	GCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152615141	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE3	161176	genome.wustl.edu	37	14	95898436	95898436	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:95898436C>T	ENST00000334258.5	-	16	2721	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	SYNE3_ENST00000554873.1_Missense_Mutation_p.E660K|SYNE3_ENST00000557275.1_Missense_Mutation_p.E898K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	903					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCAGTCGGCTCCCCTGGAGAA	0.512											OREG0022898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													59.0	53.0	55.0					14																	95898436		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2707G>A	14.37:g.95898436C>T	ENSP00000334308:p.Glu903Lys	1316	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E903K	ENST00000334258.5	37	c.2707	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534394	0.27475	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.14022	3.55;2.54;3.55	4.69	3.78	0.43462	.	0.164905	0.28859	N	0.013910	T	0.12475	0.0303	L	0.53249	1.67	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.14023	0.01;0.008	T	0.05533	-1.0879	10	0.12430	T	0.62	-24.9452	10.924	0.47182	0.0:0.9035:0.0:0.0965	.	898;903	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	K	903;660;898	ENSP00000334308:E903K;ENSP00000452154:E660K;ENSP00000450562:E898K	ENSP00000334308:E903K	E	-	1	0	C14orf49	94968189	0.980000	0.34600	0.999000	0.59377	0.987000	0.75469	0.438000	0.21559	2.301000	0.77427	0.591000	0.81541	GAG	SYNE3	-	NULL		0.512	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95898436	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.997	T
SYT10	341359	genome.wustl.edu	37	12	33579277	33579277	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:33579277C>G	ENST00000228567.3	-	2	601	c.305G>C	c.(304-306)aGt>aCt	p.S102T	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	102					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGTAGGAGCACTTGAAATGCT	0.413																																																	0													93.0	95.0	94.0					12																	33579277		2203	4300	6503	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.305G>C	12.37:g.33579277C>G	ENSP00000228567:p.Ser102Thr		Q495U2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S102T	ENST00000228567.3	37	c.305	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	5.148	0.212850	0.09757	.	.	ENSG00000110975	ENST00000228567	T	0.47869	0.83	4.1	1.27	0.21489	.	0.135863	0.33144	N	0.005239	T	0.26011	0.0634	N	0.25647	0.755	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.05533	-1.0879	10	0.12766	T	0.61	.	5.07	0.14602	0.0:0.5926:0.1534:0.254	.	102	Q6XYQ8	SYT10_HUMAN	T	102	ENSP00000228567:S102T	ENSP00000228567:S102T	S	-	2	0	SYT10	33470544	0.434000	0.25570	0.810000	0.32431	0.639000	0.38242	0.311000	0.19380	0.279000	0.22186	0.655000	0.94253	AGT	SYT10	-	NULL		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33579277	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	missense	SNP	0.979	G
TCL1B	9623	genome.wustl.edu	37	14	96152883	96152883	+	Missense_Mutation	SNP	G	G	C	rs201542434		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:96152883G>C	ENST00000340722.7	+	1	130	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	27								p.E27K(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACGAAGATGAGGAGGGGAG	0.642																																																	1	Substitution - Missense(1)	urinary_tract(1)											100.0	94.0	96.0					14																	96152883		2203	4300	6503	SO:0001583	missense	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.79G>C	14.37:g.96152883G>C	ENSP00000343223:p.Glu27Gln		A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.E27Q	ENST00000340722.7	37	c.79	CCDS32151.1	14	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416348	0.42918	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.56275	0.47	2.78	1.84	0.25277	.	.	.	.	.	T	0.53850	0.1822	M	0.79123	2.44	0.09310	N	1	P	0.52316	0.952	P	0.44422	0.449	T	0.50039	-0.8874	9	0.87932	D	0	.	7.5287	0.27671	0.0:0.2673:0.7327:0.0	.	27	O95988	TCL1B_HUMAN	Q	27	ENSP00000343223:E27Q	ENSP00000343223:E27Q	E	+	1	0	TCL1B	95222636	0.121000	0.22262	0.168000	0.22838	0.003000	0.03518	1.402000	0.34600	0.703000	0.31848	0.455000	0.32223	GAG	TCL1B	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1		0.642	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1B	HGNC	protein_coding	OTTHUMT00000315123.2	G			96152883	+1	no_errors	ENST00000340722	ensembl	human	known	70_37	missense	SNP	0.203	C
TCTE1	202500	genome.wustl.edu	37	6	44250215	44250215	+	Missense_Mutation	SNP	C	C	G	rs146833594	byFrequency	TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:44250215C>G	ENST00000371505.4	-	4	1050	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572																																																	0													107.0	96.0	100.0					6																	44250215		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.928G>C	6.37:g.44250215C>G	ENSP00000360560:p.Glu310Gln		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E310Q	ENST00000371505.4	37	c.928	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365896	0.05069	.	.	ENSG00000146221	ENST00000371505	T	0.53423	0.62	5.37	2.46	0.29980	.	0.569355	0.20252	N	0.096041	T	0.07954	0.0199	N	0.10972	0.075	0.09310	N	1	B	0.26512	0.151	B	0.22601	0.04	T	0.19811	-1.0294	10	0.17369	T	0.5	-28.2293	3.8673	0.09021	0.1246:0.5587:0.1215:0.1952	.	310	Q5JU00	TCTE1_HUMAN	Q	310	ENSP00000360560:E310Q	ENSP00000360560:E310Q	E	-	1	0	TCTE1	44358193	0.016000	0.18221	0.859000	0.33776	0.397000	0.30659	0.446000	0.21694	1.424000	0.47217	0.455000	0.32223	GAG	TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	C	NM_182539		44250215	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	0.002	G
TENC1	23371	genome.wustl.edu	37	12	53451429	53451429	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:53451429C>G	ENST00000314250.6	+	12	1214	c.924C>G	c.(922-924)ctC>ctG	p.L308L	TENC1_ENST00000552570.1_Silent_p.L308L|TENC1_ENST00000314276.3_Silent_p.L318L|TENC1_ENST00000549700.1_Silent_p.L308L|TENC1_ENST00000546602.1_Silent_p.L308L|TENC1_ENST00000451358.1_Silent_p.L308L|TENC1_ENST00000379902.3_Silent_p.L184L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	308	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ACTATGTGCTCATCCCCATGC	0.562																																																	0													170.0	165.0	167.0					12																	53451429		2203	4300	6503	SO:0001819	synonymous_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.924C>G	12.37:g.53451429C>G			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L318	ENST00000314250.6	37	c.954	CCDS8843.1	12																																																																																			TENC1	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.562	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53451429	+1	no_errors	ENST00000314276	ensembl	human	known	70_37	silent	SNP	0.365	G
THRAP3	9967	genome.wustl.edu	37	1	36762219	36762219	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:36762219C>T	ENST00000354618.5	+	9	2375	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	THRAP3_ENST00000469141.2_Silent_p.L717L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	717	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGTTGATCTCCGCCTTGATA	0.423			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													105.0	105.0	105.0					1																	36762219		2203	4300	6503	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2151C>T	1.37:g.36762219C>T			D3DPS5|Q5VTK6	Silent	SNP	NULL	p.L717	ENST00000354618.5	37	c.2151	CCDS405.1	1																																																																																			THRAP3	-	NULL		0.423	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36762219	+1	no_errors	ENST00000354618	ensembl	human	known	70_37	silent	SNP	0.739	T
THSD7A	221981	genome.wustl.edu	37	7	11582675	11582675	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:11582675G>A	ENST00000423059.4	-	5	1774	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	508	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGTTGGACAAGGAATGTGGCA	0.398										HNSCC(18;0.044)																																							0													138.0	133.0	135.0					7																	11582675		1912	4120	6032	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1523C>T	7.37:g.11582675G>A	ENSP00000406482:p.Pro508Leu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P508L	ENST00000423059.4	37	c.1523	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242025	0.58995	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60920	0.15	5.78	5.78	0.91487	.	0.188660	0.56097	D	0.000025	T	0.61714	0.2369	M	0.67517	2.055	0.80722	D	1	B	0.34161	0.439	B	0.34873	0.191	T	0.63422	-0.6641	10	0.62326	D	0.03	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	508	Q9UPZ6	THS7A_HUMAN	L	508	ENSP00000406482:P508L	ENSP00000262042:P508L	P	-	2	0	THSD7A	11549200	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.538000	0.53597	2.894000	0.99253	0.591000	0.81541	CCT	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11582675	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	A
THYN1	29087	genome.wustl.edu	37	11	134118790	134118790	+	Missense_Mutation	SNP	G	G	A	rs202070344		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr11:134118790G>A	ENST00000341541.3	-	6	1005	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	THYN1_ENST00000392594.3_Missense_Mutation_p.H182Y|THYN1_ENST00000352327.5_Intron|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392595.2_Missense_Mutation_p.H182Y	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	182						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TGAGCTTGATGATAGGATTTG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21009	0.0		0.0	False		,,,				2504	0.0																0													119.0	117.0	118.0					11																	134118790		2201	4297	6498	SO:0001583	missense	29087			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.544C>T	11.37:g.134118790G>A	ENSP00000341657:p.His182Tyr		Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.H182Y	ENST00000341541.3	37	c.544	CCDS8496.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.375	0.437378	0.12104	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594	.	.	.	5.59	1.52	0.23074	EVE domain (1);PUA-like domain (1);	0.092654	0.85682	N	0.000000	T	0.40743	0.1129	L	0.46614	1.455	0.80722	D	1	B	0.17268	0.021	B	0.22152	0.038	T	0.25606	-1.0127	9	0.02654	T	1	-25.0168	7.0083	0.24848	0.1912:0.0:0.6869:0.122	.	182	Q9P016	THYN1_HUMAN	Y	182	.	ENSP00000341657:H182Y	H	-	1	0	THYN1	133624000	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	2.142000	0.42177	0.294000	0.22547	0.655000	0.94253	CAT	THYN1	-	pfam_EVE_domain,superfamily_PUA-like_domain		0.473	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	G	NM_014174		134118790	-1	no_errors	ENST00000341541	ensembl	human	known	70_37	missense	SNP	0.978	A
TJP1	7082	genome.wustl.edu	37	15	30012692	30012692	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:30012692G>A	ENST00000346128.6	-	19	3107	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F	TJP1_ENST00000400011.2_Missense_Mutation_p.S882F|TJP1_ENST00000356107.6_Missense_Mutation_p.S878F|TJP1_ENST00000545208.2_Missense_Mutation_p.S878F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	878					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TACAGGCTCAGAGGACCGTGT	0.483																																					Melanoma(77;681 1843 6309 6570)												0													151.0	151.0	151.0					15																	30012692		1952	4149	6101	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2633C>T	15.37:g.30012692G>A	ENSP00000281537:p.Ser878Phe		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.S878F	ENST00000346128.6	37	c.2633	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365549	0.82463	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.16196	2.39;2.95;2.87;2.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.42932	-0.9422	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	871;878;878;882	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	878;882;878;878;878	ENSP00000281537:S878F;ENSP00000382890:S882F;ENSP00000441202:S878F;ENSP00000348416:S878F	.	S	-	2	0	TJP1	27799984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.826000	0.97356	0.655000	0.94253	TCT	TJP1	-	prints_ZonOcculdens		0.483	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	G	NM_003257		30012692	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	1.000	A
TLK1	9874	genome.wustl.edu	37	2	171850400	171850400	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:171850400C>A	ENST00000431350.2	-	21	2595	c.2191G>T	c.(2191-2193)Gac>Tac	p.D731Y	TLK1_ENST00000521943.1_Missense_Mutation_p.D683Y|TLK1_ENST00000360843.3_Missense_Mutation_p.D752Y|TLK1_ENST00000434911.2_Missense_Mutation_p.D635Y|TLK1_ENST00000442919.2_Missense_Mutation_p.D683Y			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGGTATGGGTCATTTGCCAGC	0.428																																																	0													161.0	144.0	150.0					2																	171850400		2203	4300	6503	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2191G>T	2.37:g.171850400C>A	ENSP00000411099:p.Asp731Tyr		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D731Y	ENST00000431350.2	37	c.2191	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621604	0.66787	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	N	0.26092	0.79	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.993;0.986;1.0	T	0.33007	-0.9885	10	0.87932	D	0	-34.8846	19.9855	0.97347	0.0:1.0:0.0:0.0	.	635;752;731	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	Y	683;731;752;683;635	ENSP00000402165:D683Y;ENSP00000411099:D731Y;ENSP00000354089:D752Y;ENSP00000428113:D683Y;ENSP00000409222:D635Y	ENSP00000354089:D752Y	D	-	1	0	TLK1	171558646	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.818000	0.86416	2.735000	0.93741	0.555000	0.69702	GAC	TLK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	C	NM_012290		171850400	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	A
TLN1	7094	genome.wustl.edu	37	9	35717718	35717718	+	Missense_Mutation	SNP	C	C	G	rs373242456		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:35717718C>G	ENST00000314888.9	-	18	2414	c.2061G>C	c.(2059-2061)aaG>aaC	p.K687N	TLN1_ENST00000540444.1_Missense_Mutation_p.K687N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	687					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCACACTCTTGGCCTTGA	0.547																																																	0													142.0	120.0	127.0					9																	35717718		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2061G>C	9.37:g.35717718C>G	ENSP00000316029:p.Lys687Asn		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.K687N	ENST00000314888.9	37	c.2061	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983098	0.74474	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73152	-0.69;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83886	0.0282	10	0.35671	T	0.21	-21.6337	11.661	0.51347	0.0:0.9193:0.0:0.0807	.	687	Q9Y490	TLN1_HUMAN	N	687	ENSP00000316029:K687N;ENSP00000442981:K687N	ENSP00000316029:K687N	K	-	3	2	TLN1	35707718	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.052000	0.57420	2.571000	0.86741	0.561000	0.74099	AAG	TLN1	-	NULL		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289		35717718	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM108	66000	genome.wustl.edu	37	3	133099751	133099751	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:133099751G>A	ENST00000321871.6	+	4	1406	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.G399E|TMEM108_ENST00000515826.1_Missense_Mutation_p.G399E	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	399						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTATTTCTGGAGCCAAGGAG	0.592																																																	0													49.0	50.0	49.0					3																	133099751		2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1196G>A	3.37:g.133099751G>A	ENSP00000324651:p.Gly399Glu		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.G399E	ENST00000321871.6	37	c.1196	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333584	0.01298	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.44083	0.97;0.97;0.93	2.85	-5.7	0.02421	.	2.082560	0.02564	N	0.097055	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.009	B;B	0.19391	0.025;0.01	T	0.23368	-1.0190	10	0.06891	T	0.86	10.232	5.2709	0.15624	0.136:0.548:0.2197:0.0964	.	399;399	E9PB58;Q6UXF1	.;TM108_HUMAN	E	399	ENSP00000324651:G399E;ENSP00000376838:G399E;ENSP00000423338:G399E	ENSP00000324651:G399E	G	+	2	0	TMEM108	134582441	0.000000	0.05858	0.235000	0.24058	0.684000	0.39900	-2.895000	0.00707	-1.928000	0.01059	-0.305000	0.09177	GGA	TMEM108	-	NULL		0.592	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	G	NM_023943		133099751	+1	no_errors	ENST00000321871	ensembl	human	known	70_37	missense	SNP	0.004	A
TMEM150A	129303	genome.wustl.edu	37	2	85828196	85828196	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:85828196C>T	ENST00000409668.1	-	3	615	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TMEM150A_ENST00000306353.3_Silent_p.L19L|TMEM150A_ENST00000334462.5_Missense_Mutation_p.E50K			Q86TG1	T150A_HUMAN	transmembrane protein 150A	50					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCCCCTTGCTCAGCAGGGTCA	0.642																																																	0													56.0	49.0	51.0					2																	85828196		2203	4300	6503	SO:0001583	missense	129303			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.148G>A	2.37:g.85828196C>T	ENSP00000387292:p.Glu50Lys		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.E50K	ENST00000409668.1	37	c.148	CCDS33233.1	2	.	.	.	.	.	.	.	.	.	.	C	3.166	-0.171002	0.06421	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.40756	1.02;1.02	5.06	2.91	0.33838	.	0.213663	0.37577	N	0.002032	T	0.09905	0.0243	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35201	-0.9798	10	0.02654	T	1	-12.0325	3.837	0.08899	0.0:0.5856:0.2575:0.1569	.	50	Q86TG1	T150A_HUMAN	K	50	ENSP00000334708:E50K;ENSP00000387292:E50K	ENSP00000334708:E50K	E	-	1	0	TMEM150A	85681707	0.154000	0.22792	0.997000	0.53966	0.997000	0.91878	0.611000	0.24268	1.075000	0.40932	0.655000	0.94253	GAG	TMEM150A	-	pfam_Frag1/DRAM/Sfk1		0.642	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM150A	HGNC	protein_coding	OTTHUMT00000329474.1	C	NM_153342		85828196	-1	no_errors	ENST00000334462	ensembl	human	known	70_37	missense	SNP	0.021	T
TMEM165	55858	genome.wustl.edu	37	4	56277808	56277808	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:56277808C>T	ENST00000381334.5	+	2	468	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	TMEM165_ENST00000542052.1_Missense_Mutation_p.H16Y|Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	79					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AGCTCCAGTTCATACCAATAA	0.299																																																	0													77.0	74.0	75.0					4																	56277808		2203	4300	6503	SO:0001583	missense	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.235C>T	4.37:g.56277808C>T	ENSP00000370736:p.His79Tyr		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	pfam_UPF0016	p.H79Y	ENST00000381334.5	37	c.235	CCDS3499.1	4	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769365	0.49680	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.83163	-1.69;-1.62	5.41	4.55	0.56014	.	0.616970	0.17311	N	0.178883	T	0.69682	0.3138	N	0.19112	0.55	0.28884	N	0.894264	B;P	0.41450	0.054;0.75	B;B	0.28385	0.043;0.089	T	0.67910	-0.5548	10	0.59425	D	0.04	-0.7602	16.1767	0.81857	0.0:0.8665:0.1335:0.0	.	16;79	B4DHW1;Q9HC07	.;TM165_HUMAN	Y	79;16	ENSP00000370736:H79Y;ENSP00000437816:H16Y	ENSP00000370736:H79Y	H	+	1	0	TMEM165	55972565	0.999000	0.42202	0.944000	0.38274	0.898000	0.52572	1.870000	0.39529	1.470000	0.48102	0.655000	0.94253	CAT	TMEM165	-	NULL		0.299	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	C	NM_018475		56277808	+1	no_errors	ENST00000381334	ensembl	human	known	70_37	missense	SNP	0.981	T
TMEM38B	55151	genome.wustl.edu	37	9	108510422	108510422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:108510422C>G	ENST00000374692.3	+	5	728	c.611C>G	c.(610-612)tCa>tGa	p.S204*	TMEM38B_ENST00000374688.1_Nonsense_Mutation_p.S150*	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	204						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGGCAATATCAAAGCATAAT	0.373																																																	0													91.0	83.0	86.0					9																	108510422		2203	4300	6503	SO:0001587	stop_gained	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.611C>G	9.37:g.108510422C>G	ENSP00000363824:p.Ser204*		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Nonsense_Mutation	SNP	pfam_TRIC_channel	p.S204*	ENST00000374692.3	37	c.611	CCDS6768.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.09|18.09|18.09	3.546159|3.546159|3.546159	0.65198|0.65198|0.65198	.|.|.	.|.|.	ENSG00000095209|ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034|ENST00000374692;ENST00000374688	.|.|.	.|.|.	.|.|.	5.47|5.47|5.47	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.526013	.|.|0.21068	.|.|N	.|.|0.080701	T|T|.	0.70692|0.70692|.	0.3253|0.3253|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70208|0.70208|.	-0.4935|-0.4935|.	5|4|.	0.46703|.|0.46703	T|.|T	0.11|.|0.11	-2.8215|-2.8215|-2.8215	13.7646|13.7646|13.7646	0.62988|0.62988|0.62988	0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|E|X	64|141|204;150	.|.|.	ENSP00000416680:I64M|.|ENSP00000363820:S150X	I|Q|S	+|+|+	3|1|2	3|0|0	TMEM38B|TMEM38B|TMEM38B	107550243|107550243|107550243	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.967000|0.967000|0.967000	0.64934|0.64934|0.64934	1.480000|1.480000|1.480000	0.35464|0.35464|0.35464	2.720000|2.720000|2.720000	0.93068|0.93068|0.93068	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	ATC|CAA|TCA	TMEM38B	-	pfam_TRIC_channel		0.373	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	C	NM_018112		108510422	+1	no_errors	ENST00000374692	ensembl	human	known	70_37	nonsense	SNP	0.998	G
TMEM61	199964	genome.wustl.edu	37	1	55451823	55451823	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:55451823C>A	ENST00000371268.3	+	2	343	c.69C>A	c.(67-69)agC>agA	p.S23R	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	23						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGACAGTCAGCGGCACAGTGG	0.617																																																	0													48.0	48.0	48.0					1																	55451823		2203	4300	6503	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.69C>A	1.37:g.55451823C>A	ENSP00000360315:p.Ser23Arg			Missense_Mutation	SNP	NULL	p.S23R	ENST00000371268.3	37	c.69	CCDS601.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668065	0.29604	.	.	ENSG00000143001	ENST00000371268	T	0.52526	0.66	4.8	-2.35	0.06684	.	0.653649	0.14283	N	0.329418	T	0.43122	0.1233	N	0.24115	0.695	0.19300	N	0.999977	D	0.59357	0.985	P	0.55965	0.788	T	0.46133	-0.9213	10	0.56958	D	0.05	-3.2167	10.9236	0.47180	0.0:0.4636:0.0:0.5364	.	23	Q8N0U2	TMM61_HUMAN	R	23	ENSP00000360315:S23R	ENSP00000360315:S23R	S	+	3	2	TMEM61	55224411	0.000000	0.05858	0.025000	0.17156	0.103000	0.19146	-1.843000	0.01680	-0.584000	0.05913	0.655000	0.94253	AGC	TMEM61	-	NULL		0.617	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM61	HGNC	protein_coding	OTTHUMT00000027683.1	C	NM_182532		55451823	+1	no_errors	ENST00000371268	ensembl	human	known	70_37	missense	SNP	0.265	A
SARAF	51669	genome.wustl.edu	37	8	29924375	29924375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:29924375G>A	ENST00000256255.6	-	4	1017	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	TMEM66_ENST00000536273.1_Nonsense_Mutation_p.Q82*|TMEM66_ENST00000545648.1_Nonsense_Mutation_p.Q82*	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		254					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCATATCCTTGTTGTCCTGTA	0.393																																																	0													143.0	141.0	142.0					8																	29924375		2203	4300	6503	SO:0001587	stop_gained	51669																														ENST00000256255.6:c.760C>T	8.37:g.29924375G>A	ENSP00000256255:p.Gln254*		B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Nonsense_Mutation	SNP	pfam_DUF1183_TMEM66	p.Q254*	ENST00000256255.6	37	c.760	CCDS6074.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.041599|8.041599	0.98624|0.98624	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127|ENST00000518296	.|.	.|.	.|.	4.38|4.38	3.49|3.49	0.39957|0.39957	.|.	0.179734|.	0.51477|.	D|.	0.000084|.	.|T	.|0.41328	.|0.1154	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49725	.|-0.8909	.|3	0.21014|.	T|.	0.42|.	-8.6193|-8.6193	6.1691|6.1691	0.20406|0.20406	0.1033:0.1931:0.7036:0.0|0.1033:0.1931:0.7036:0.0	.|.	.|.	.|.	.|.	X|I	254;82;218;82;152|123	.|.	ENSP00000256255:Q254X|.	Q|T	-|-	1|2	0|0	TMEM66|TMEM66	30043917|30043917	0.089000|0.089000	0.21612|0.21612	0.938000|0.938000	0.37757|0.37757	0.986000|0.986000	0.74619|0.74619	1.617000|1.617000	0.36943|0.36943	0.838000|0.838000	0.34948|0.34948	0.580000|0.580000	0.79431|0.79431	CAA|ACA	TMEM66	-	pfam_DUF1183_TMEM66		0.393	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM66	HGNC	protein_coding	OTTHUMT00000257254.4	G			29924375	-1	no_errors	ENST00000256255	ensembl	human	known	70_37	nonsense	SNP	0.145	A
TMEM92	162461	genome.wustl.edu	37	17	48355920	48355920	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:48355920C>G	ENST00000300433.3	+	4	209	c.99C>G	c.(97-99)gcC>gcG	p.A33A	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Silent_p.A33A	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	33						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TGACCAGTGCCTGCCCCAAAG	0.587																																																	0													82.0	68.0	73.0					17																	48355920		2203	4300	6503	SO:0001819	synonymous_variant	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.99C>G	17.37:g.48355920C>G			Q8NBF0	Silent	SNP	NULL	p.A33	ENST00000300433.3	37	c.99	CCDS11562.1	17																																																																																			TMEM92	-	NULL		0.587	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48355920	+1	no_errors	ENST00000300433	ensembl	human	known	70_37	silent	SNP	0.682	G
TNF	7124	genome.wustl.edu	37	6	31544969	31544969	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:31544969G>A	ENST00000449264.2	+	4	532	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	119					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCGTGGAGCTGAGAGATAACC	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													111.0	92.0	98.0					6																	31544969		1511	2709	4220	SO:0001819	synonymous_variant	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.357G>A	6.37:g.31544969G>A			O43647|Q9P1Q2|Q9UIV3	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c	p.L119	ENST00000449264.2	37	c.357	CCDS4702.1	6																																																																																			TNF	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_alpha,prints_TNF_a/b/c		0.627	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNF	HGNC	protein_coding	OTTHUMT00000076390.2	G			31544969	+1	no_errors	ENST00000449264	ensembl	human	known	70_37	silent	SNP	0.060	A
TNIP3	79931	genome.wustl.edu	37	4	122137568	122137568	+	Splice_Site	SNP	A	A	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr4:122137568A>C	ENST00000509841.1	-	2	168		c.e2+1		TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000454328.1_Splice_Site	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AACTGTTATTACCTTTCAGAA	0.313																																																	0																																										SO:0001630	splice_region_variant	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.89+1T>G	4.37:g.122137568A>C				Splice_Site	SNP	-	e0+2	ENST00000509841.1	37	c.1+2	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368647	0.42003	.	.	ENSG00000050730	ENST00000507879;ENST00000509841	.	.	.	5.96	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6902	0.45867	0.9262:0.0:0.0738:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNIP3	122357018	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.597000	0.54031	2.285000	0.76669	0.533000	0.62120	.	TNIP3	-	-		0.313	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	A	NM_024873	Intron	122137568	-1	no_errors	ENST00000454328	ensembl	human	known	70_37	splice_site	SNP	1.000	C
TNRC18	84629	genome.wustl.edu	37	7	5399153	5399153	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:5399153G>A	ENST00000430969.1	-	15	5057	c.4709C>T	c.(4708-4710)gCa>gTa	p.A1570V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1570V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1570							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)		TCTTATCCCTGCTCCCAGCTC	0.557																																																	0													179.0	177.0	177.0					7																	5399153		2053	4215	6268	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.4709C>T	7.37:g.5399153G>A	ENSP00000395538:p.Ala1570Val		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1570V	ENST00000430969.1	37	c.4709	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	21.5	4.159731	0.78226	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.45668	2.7;2.7;0.89	5.53	4.57	0.56435	.	0.165528	0.29046	N	0.013301	T	0.39784	0.1091	M	0.65975	2.015	0.30063	N	0.810746	B	0.31680	0.335	B	0.30401	0.115	T	0.44174	-0.9345	10	0.40728	T	0.16	.	10.5729	0.45211	0.0:0.0:0.6719:0.3281	.	1570	O15417	TNC18_HUMAN	V	1570;1570;625;60	ENSP00000382452:A1570V;ENSP00000395538:A1570V;ENSP00000395990:A60V	ENSP00000382452:A1570V	A	-	2	0	TNRC18	5365679	0.981000	0.34729	0.994000	0.49952	0.803000	0.45373	1.958000	0.40402	2.596000	0.87737	0.561000	0.74099	GCA	TNRC18	-	NULL		0.557	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5399153	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.997	A
TPBG	7162	genome.wustl.edu	37	6	83075876	83075876	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:83075876C>T	ENST00000369750.3	+	2	1815	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	TPBG_ENST00000535040.1_Missense_Mutation_p.H400Y|TPBG_ENST00000543496.1_Missense_Mutation_p.H400Y			Q13641	TPBG_HUMAN	trophoblast glycoprotein	400					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GGAAGGGTATCATTACAGATA	0.438																																																	0													72.0	74.0	73.0					6																	83075876		2203	4300	6503	SO:0001583	missense	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1198C>T	6.37:g.83075876C>T	ENSP00000358765:p.His400Tyr		A8K555	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H400Y	ENST00000369750.3	37	c.1198	CCDS4995.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292340	0.80914	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.61980	0.06;0.06;0.06	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.75648	-0.3245	10	0.87932	D	0	-10.8615	19.3907	0.94581	0.0:1.0:0.0:0.0	.	400	Q13641	TPBG_HUMAN	Y	400	ENSP00000441219:H400Y;ENSP00000358765:H400Y;ENSP00000440049:H400Y	ENSP00000358765:H400Y	H	+	1	0	TPBG	83132595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.595000	0.87683	0.650000	0.86243	CAT	TPBG	-	NULL		0.438	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPBG	HGNC	protein_coding	OTTHUMT00000041340.1	C			83075876	+1	no_errors	ENST00000369750	ensembl	human	known	70_37	missense	SNP	1.000	T
TRAPPC9	83696	genome.wustl.edu	37	8	141321456	141321456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:141321456G>A	ENST00000438773.2	-	10	1646	c.1513C>T	c.(1513-1515)Caa>Taa	p.Q505*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.Q496*|TRAPPC9_ENST00000389328.4_Nonsense_Mutation_p.Q603*	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	505				Missing (in Ref. 4; CAH56384). {ECO:0000305}.	cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTAGGCTTTGGGCCACATCT	0.493																																																	0													96.0	95.0	95.0					8																	141321456		2203	4300	6503	SO:0001587	stop_gained	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1513C>T	8.37:g.141321456G>A	ENSP00000405060:p.Gln505*		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Nonsense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.Q603*	ENST00000438773.2	37	c.1807	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.458543|4.458543	0.84317|0.84317	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.66|5.66	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42899|.	0.1223|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42413|.	-0.9453|.	3|.	.|0.02654	.|T	.|1	.|.	16.5787|16.5787	0.84708|0.84708	0.0:0.1308:0.8692:0.0|0.0:0.1308:0.8692:0.0	.|.	.|.	.|.	.|.	L|X	348|603;496;505	.|.	.|ENSP00000373978:Q496X	P|Q	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141390638|141390638	1.000000|1.000000	0.71417|0.71417	0.245000|0.245000	0.24217|0.24217	0.031000|0.031000	0.12232|0.12232	8.365000|8.365000	0.90108|0.90108	1.515000|1.515000	0.48885|0.48885	-0.181000|-0.181000	0.13052|0.13052	CCA|CAA	TRAPPC9	-	NULL		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	G	NM_031466		141321456	-1	no_errors	ENST00000389328	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRIM41	90933	genome.wustl.edu	37	5	180657818	180657818	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr5:180657818G>C	ENST00000315073.5	+	2	1598	c.888G>C	c.(886-888)gaG>gaC	p.E296D	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E296D	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	296					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGGAGGAGAGGCGAGTGA	0.557																																																	0													166.0	139.0	148.0					5																	180657818		2203	4300	6503	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.888G>C	5.37:g.180657818G>C	ENSP00000320869:p.Glu296Asp		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E296D	ENST00000315073.5	37	c.888	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	g	16.94	3.259671	0.59321	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073;ENST00000438174	T;T;T	0.58652	3.56;0.79;0.32	5.37	5.37	0.77165	.	0.107679	0.41396	D	0.000888	T	0.69079	0.3071	L	0.46741	1.465	0.32239	N	0.572985	D;D;D;D	0.76494	0.999;0.979;0.99;0.99	D;P;D;D	0.76071	0.987;0.628;0.971;0.971	T	0.73531	-0.3953	10	0.45353	T	0.12	.	14.6139	0.68534	0.0:0.0:1.0:0.0	.	6;296;296;296	D6REK2;Q8WV44;Q8WV44-2;Q8WV44-4	.;TRI41_HUMAN;.;.	D	6;296;296;6	ENSP00000426803:E6D;ENSP00000336749:E296D;ENSP00000320869:E296D	ENSP00000320869:E296D	E	+	3	2	TRIM41	180590424	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.976000	0.40579	2.506000	0.84524	0.457000	0.33378	GAG	TRIM41	-	pfam_DUF3631		0.557	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	G	NM_201627		180657818	+1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPM4	54795	genome.wustl.edu	37	19	49691917	49691917	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:49691917C>T	ENST00000252826.5	+	13	1889	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	TRPM4_ENST00000427978.2_Missense_Mutation_p.S588L|TRPM4_ENST00000355712.5_Missense_Mutation_p.S234L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	588					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCAGTTTCCTCAGCTCTTGGG	0.582																																																	0													94.0	90.0	91.0					19																	49691917		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1763C>T	19.37:g.49691917C>T	ENSP00000252826:p.Ser588Leu		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S588L	ENST00000252826.5	37	c.1763	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	c	20.2	3.941208	0.73557	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.74002	-0.8;-0.8;-0.8	4.37	3.25	0.37280	.	0.418310	0.23448	N	0.048080	T	0.78566	0.4303	L	0.45137	1.4	0.25158	N	0.990374	P;P;P;D	0.65815	0.816;0.782;0.557;0.995	B;B;B;P	0.61477	0.186;0.274;0.178;0.889	T	0.70659	-0.4811	10	0.72032	D	0.01	-5.3284	13.7102	0.62663	0.0:0.7688:0.2312:0.0	.	234;414;588;588	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	588;588;234	ENSP00000252826:S588L;ENSP00000407492:S588L;ENSP00000347944:S234L	ENSP00000252826:S588L	S	+	2	0	TRPM4	54383729	0.137000	0.22531	0.895000	0.35142	0.899000	0.52679	1.132000	0.31418	2.181000	0.69327	0.546000	0.68486	TCA	TRPM4	-	NULL		0.582	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49691917	+1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	0.639	T
TSC22D1	8848	genome.wustl.edu	37	13	45148542	45148542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:45148542G>A	ENST00000458659.2	-	1	2159	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	557	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q557E(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGCTTTTGCTGATAGCTCAGT	0.458																																																	1	Substitution - Missense(1)	breast(1)											129.0	118.0	122.0					13																	45148542		2203	4300	6503	SO:0001587	stop_gained	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1669C>T	13.37:g.45148542G>A	ENSP00000397435:p.Gln557*		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Nonsense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.Q557*	ENST00000458659.2	37	c.1669	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	42	9.408160	0.99163	.	.	ENSG00000102804	ENST00000458659	.	.	.	4.61	3.75	0.43078	.	0.390537	0.22137	N	0.064112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	13.1585	0.59531	0.0:0.0:0.8387:0.1613	.	.	.	.	X	557	.	ENSP00000397435:Q557X	Q	-	1	0	TSC22D1	44046542	0.989000	0.36119	0.997000	0.53966	0.956000	0.61745	2.981000	0.49329	1.279000	0.44446	0.491000	0.48974	CAG	TSC22D1	-	NULL		0.458	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	G	NM_006022		45148542	-1	no_errors	ENST00000458659	ensembl	human	known	70_37	nonsense	SNP	0.997	A
TSNAXIP1	55815	genome.wustl.edu	37	16	67855080	67855080	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:67855080C>G	ENST00000415766.3	+	3	611	c.226C>G	c.(226-228)Cct>Gct	p.P76A	TSNAXIP1_ENST00000388833.3_Silent_p.L59L|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L113L					translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCAAGGAGCTCCTCCTGCTGG	0.597																																																	0													25.0	29.0	28.0					16																	67855080		1981	4139	6120	SO:0001583	missense	55815			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000415766.3:c.226C>G	16.37:g.67855080C>G	ENSP00000411472:p.Pro76Ala			Missense_Mutation	SNP	NULL	p.P76A	ENST00000415766.3	37	c.226		16	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598250	0.66332	.	.	ENSG00000102904	ENST00000415766	.	.	.	4.48	-0.18	0.13295	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.18085	-1.0348	7	0.40728	T	0.16	-14.7332	6.2187	0.20669	0.0:0.3996:0.4115:0.1889	.	76	E7ENJ7	.	A	76	.	ENSP00000411472:P76A	P	+	1	0	TSNAXIP1	66412581	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.525000	0.22956	0.217000	0.20800	0.643000	0.83706	CCT	TSNAXIP1	-	NULL		0.597	TSNAXIP1-004	NOVEL	basic|appris_candidate	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000421801.1	C	NM_018430		67855080	+1	no_errors	ENST00000563363	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC30A	92104	genome.wustl.edu	37	2	178482973	178482973	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:178482973C>G	ENST00000355689.5	-	1	721	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	153					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CCATCGGTCTCATTGTCGCCT	0.577																																																	0													136.0	137.0	136.0					2																	178482973		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.457G>C	2.37:g.178482973C>G	ENSP00000347915:p.Glu153Gln		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E153Q	ENST00000355689.5	37	c.457	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829674	0.16749	.	.	ENSG00000197557	ENST00000355689	T	0.79141	-1.24	5.78	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.238350	0.48286	D	0.000190	T	0.64159	0.2573	N	0.08118	0	0.35030	D	0.7587	B	0.25772	0.134	B	0.28011	0.085	T	0.70204	-0.4936	10	0.72032	D	0.01	.	16.7916	0.85590	0.0:0.8711:0.1289:0.0	.	153	Q86WT1	TT30A_HUMAN	Q	153	ENSP00000347915:E153Q	ENSP00000347915:E153Q	E	-	1	0	TTC30A	178191219	0.844000	0.29557	0.148000	0.22405	0.053000	0.15095	1.812000	0.38952	1.418000	0.47098	0.549000	0.68633	GAG	TTC30A	-	pfscan_TPR-contain_dom		0.577	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178482973	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.988	G
TTI1	9675	genome.wustl.edu	37	20	36627619	36627619	+	Missense_Mutation	SNP	C	C	T	rs200742197		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:36627619C>T	ENST00000373448.2	-	6	3002	c.2764G>A	c.(2764-2766)Gcc>Acc	p.A922T	TTI1_ENST00000449821.1_Missense_Mutation_p.A922T|TTI1_ENST00000373447.3_Missense_Mutation_p.A922T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	922					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCCAGGGGGGCGTCCCGTGTG	0.587																																																	0													82.0	77.0	79.0					20																	36627619		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2764G>A	20.37:g.36627619C>T	ENSP00000362547:p.Ala922Thr		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.A922T	ENST00000373448.2	37	c.2764	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211667	0.39102	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.56611	0.45;0.45;0.45	4.59	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.199120	0.51477	N	0.000081	T	0.31040	0.0784	N	0.08118	0	0.26164	N	0.979953	B	0.17667	0.023	B	0.06405	0.002	T	0.18745	-1.0327	10	0.38643	T	0.18	-7.4266	11.8079	0.52165	0.0:0.9148:0.0:0.0852	.	922	O43156	TTI1_HUMAN	T	922	ENSP00000362547:A922T;ENSP00000362546:A922T;ENSP00000407270:A922T	ENSP00000362546:A922T	A	-	1	0	TTI1	36061033	1.000000	0.71417	0.930000	0.37139	0.192000	0.23643	4.351000	0.59398	1.159000	0.42565	-0.253000	0.11424	GCC	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.587	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36627619	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	1.000	T
TTLL5	23093	genome.wustl.edu	37	14	76420866	76420866	+	3'UTR	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:76420866C>T	ENST00000298832.9	+	0	4128					NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACCAGCACTTCAAGGGGTCCA	0.468																																																	0													88.0	69.0	75.0					14																	76420866		692	1591	2283	SO:0001624	3_prime_UTR_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.*77C>T	14.37:g.76420866C>T			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	RNA	SNP	-	NULL	ENST00000298832.9	37	NULL	CCDS32124.1	14																																																																																			TTLL5	-	-		0.468	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	C	NM_015072		76420866	+1	no_errors	ENST00000554972	ensembl	human	known	70_37	rna	SNP	0.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50659792	50659792	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:50659792G>A	ENST00000248846.5	-	16	3100	c.2996C>T	c.(2995-2997)tCg>tTg	p.S999L	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.S999L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	999					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTCTCCCGCGAGGCGGAGCC	0.672																																																	0													22.0	23.0	23.0					22																	50659792		2203	4299	6502	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2996C>T	22.37:g.50659792G>A	ENSP00000248846:p.Ser999Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.S999L	ENST00000248846.5	37	c.2996	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335072	0.24253	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11385	3.2;2.78	3.51	-7.03	0.01584	.	30.567900	0.00166	N	0.000000	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.017;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.31052	-0.9957	10	0.42905	T	0.14	.	4.4961	0.11837	0.1463:0.2704:0.4701:0.1133	.	991;999;999	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	L	999	ENSP00000248846:S999L;ENSP00000397387:S999L	ENSP00000248846:S999L	S	-	2	0	TUBGCP6	49001919	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.766000	0.04725	-1.616000	0.01572	-1.300000	0.01332	TCG	TUBGCP6	-	pfam_Spc97_Spc98		0.672	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50659792	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	0.000	A
UBE3C	9690	genome.wustl.edu	37	7	157046683	157046683	+	Silent	SNP	T	T	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:157046683T>A	ENST00000348165.5	+	20	3090	c.2730T>A	c.(2728-2730)ccT>ccA	p.P910P		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	910	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAGACATCCCTGTCACCAGCG	0.483																																																	0													55.0	58.0	57.0					7																	157046683		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2730T>A	7.37:g.157046683T>A			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.P910	ENST00000348165.5	37	c.2730	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.483	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	T	NM_014671		157046683	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	0.695	A
EARS2	124454	genome.wustl.edu	37	16	23568552	23568552	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:23568552C>G	ENST00000563459.1	-	1	119	c.113G>C	c.(112-114)cGa>cCa	p.R38P	EARS2_ENST00000564501.1_Missense_Mutation_p.R38P|EARS2_ENST00000563232.1_Missense_Mutation_p.R38P|UBFD1_ENST00000395878.3_5'Flank|UBFD1_ENST00000567212.1_5'Flank|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000449606.1_Missense_Mutation_p.R38P|UBFD1_ENST00000219638.4_Missense_Mutation_p.S54W			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	38					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GAACCGCACTCGCACCGCAAC	0.701																																																	0													11.0	16.0	14.0					16																	23568552		1963	4115	6078	SO:0001583	missense	56061			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.113G>C	16.37:g.23568552C>G	ENSP00000456467:p.Arg38Pro		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S54W	ENST00000563459.1	37	c.161	CCDS42132.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210342|4.210342	0.79240|0.79240	.|.	.|.	ENSG00000103356|ENSG00000103353	ENST00000449606;ENST00000341597|ENST00000219638	T|.	0.25414|.	1.8|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88749|0.88749	0.6521|0.6521	H|H	0.99026|0.99026	4.405|4.405	0.35910|0.35910	D|D	0.831013|0.831013	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.94274|0.94274	0.7513|0.7513	10|6	0.87932|0.87932	D|D	0|0	-3.8792|-3.8792	13.9581|13.9581	0.64162|0.64162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	38;38|.	Q86YH3;Q5JPH6|.	.;SYEM_HUMAN|.	P|W	38|54	ENSP00000395196:R38P|.	ENSP00000343488:R38P|ENSP00000219638:S54W	R|S	-|+	2|2	0|0	EARS2|UBFD1	23476053|23476053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	5.302000|5.302000	0.65733|0.65733	2.754000|2.754000	0.94517|0.94517	0.563000|0.563000	0.77884|0.77884	CGA|TCG	UBFD1	-	NULL		0.701	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	C	NM_133451		23568552	+1	no_errors	ENST00000219638	ensembl	human	known	70_37	missense	SNP	1.000	G
UBR5	51366	genome.wustl.edu	37	8	103358560	103358560	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:103358560G>C	ENST00000520539.1	-	7	1246	c.640C>G	c.(640-642)Ctt>Gtt	p.L214V	UBR5_ENST00000220959.4_Missense_Mutation_p.L214V|UBR5_ENST00000521922.1_Missense_Mutation_p.L214V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	214					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACATCAAGATTTGTTCTC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)												0													131.0	123.0	126.0					8																	103358560		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.640C>G	8.37:g.103358560G>C	ENSP00000429084:p.Leu214Val		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L214V	ENST00000520539.1	37	c.640	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044949	0.93685	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.77358	-1.05;-1.05;-1.09	5.47	5.47	0.80525	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.57536	1.79	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	D	0.87203	0.2242	10	0.87932	D	0	.	19.6975	0.96031	0.0:0.0:1.0:0.0	.	214;214	E7EMW7;O95071	.;UBR5_HUMAN	V	214	ENSP00000429084:L214V;ENSP00000220959:L214V;ENSP00000427819:L214V	ENSP00000220959:L214V	L	-	1	0	UBR5	103427736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.878000	0.87231	2.729000	0.93468	0.557000	0.71058	CTT	UBR5	-	pfam_E3_UbLigase_EDD_UBA		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103358560	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	C
UHRF1	29128	genome.wustl.edu	37	19	4929293	4929293	+	RNA	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:4929293C>A	ENST00000592666.1	+	0	789							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCATCCAGCTCCTGGTCCGCC	0.632																																																	0													62.0	67.0	65.0					19																	4929293		2184	4273	6457			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929293C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-		0.632	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	C	NM_001048201		4929293	+1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	0.968	A
URGCP	55665	genome.wustl.edu	37	7	43917456	43917456	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr7:43917456G>C	ENST00000453200.1	-	6	2099	c.1606C>G	c.(1606-1608)Cga>Gga	p.R536G	URGCP_ENST00000402306.3_Missense_Mutation_p.R527G|URGCP_ENST00000447717.3_Missense_Mutation_p.R493G|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.R493G|URGCP_ENST00000443736.1_Missense_Mutation_p.R493G|URGCP_ENST00000336086.6_Missense_Mutation_p.R493G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	536					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTGCATTCGAAGTTCTAGC	0.612																																																	0													42.0	47.0	45.0					7																	43917456		2014	4164	6178	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1606C>G	7.37:g.43917456G>C	ENSP00000396918:p.Arg536Gly		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.R536G	ENST00000453200.1	37	c.1606	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978361	0.34942	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.15603	2.45;2.45;2.42;2.45;2.41;2.45	5.69	2.48	0.30137	.	0.409870	0.23731	N	0.045124	T	0.42223	0.1193	M	0.81112	2.525	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.34403	-0.9830	10	0.72032	D	0.01	-23.3607	14.0488	0.64722	0.0:0.0:0.605:0.395	.	527;536	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	G	493;493;527;493;536;493	ENSP00000223341:R493G;ENSP00000336872:R493G;ENSP00000384955:R527G;ENSP00000392136:R493G;ENSP00000396918:R536G;ENSP00000402803:R493G	ENSP00000223341:R493G	R	-	1	2	URGCP	43883981	0.904000	0.30761	0.112000	0.21494	0.743000	0.42351	2.872000	0.48467	0.707000	0.31934	-0.181000	0.13052	CGA	URGCP	-	NULL		0.612	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	G	NM_001077664		43917456	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	0.027	C
UROC1	131669	genome.wustl.edu	37	3	126219628	126219628	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:126219628C>A	ENST00000290868.2	-	11	1108	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	UROC1_ENST00000383579.3_Missense_Mutation_p.G412V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	352					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTAGTAGCCGCCATTGAACGG	0.612																																																	0													103.0	98.0	100.0					3																	126219628		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1055G>T	3.37:g.126219628C>A	ENSP00000290868:p.Gly352Val		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.G352V	ENST00000290868.2	37	c.1055	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	21.4	4.136423	0.77662	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46819	0.86;0.86	4.62	4.62	0.57501	Urocanase domain (2);	0.056754	0.64402	D	0.000001	T	0.76550	0.4003	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83684	0.0173	10	0.87932	D	0	-9.8793	12.9861	0.58592	0.0:1.0:0.0:0.0	.	412;352	E9PE13;Q96N76	.;HUTU_HUMAN	V	352;412	ENSP00000290868:G352V;ENSP00000373073:G412V	ENSP00000290868:G352V	G	-	2	0	UROC1	127702318	1.000000	0.71417	0.923000	0.36655	0.951000	0.60555	7.283000	0.78640	2.124000	0.65301	0.486000	0.48141	GGC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126219628	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.997	A
USH2A	7399	genome.wustl.edu	37	1	215955461	215955461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:215955461C>A	ENST00000307340.3	-	54	11049	c.10663G>T	c.(10663-10665)Gag>Tag	p.E3555*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.E3555*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3555	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAATTCCCTCTTTATCAGAG	0.413										HNSCC(13;0.011)																																							0													100.0	97.0	98.0					1																	215955461		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10663G>T	1.37:g.215955461C>A	ENSP00000305941:p.Glu3555*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E3555*	ENST00000307340.3	37	c.10663	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	53	20.446476	0.99930	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.76	-7.94	0.01152	.	1.345070	0.05275	N	0.518344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.5497	0.33444	0.0:0.3649:0.3207:0.3144	.	.	.	.	X	3555	.	ENSP00000305941:E3555X	E	-	1	0	USH2A	214022084	0.000000	0.05858	0.000000	0.03702	0.801000	0.45260	-0.327000	0.07955	-1.474000	0.01879	-0.806000	0.03193	GAG	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215955461	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	nonsense	SNP	0.000	A
USP20	10868	genome.wustl.edu	37	9	132631176	132631176	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:132631176C>T	ENST00000315480.4	+	12	1329	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	USP20_ENST00000372429.3_Missense_Mutation_p.R391C|USP20_ENST00000358355.1_Missense_Mutation_p.R391C			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	391	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGCTCCTCTCGCCCCTGCAG	0.667																																																	0													40.0	49.0	46.0					9																	132631176		2158	4250	6408	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1171C>T	9.37:g.132631176C>T	ENSP00000313811:p.Arg391Cys		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R391C	ENST00000315480.4	37	c.1171	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090722	0.76756	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19532	2.14;2.14;2.14	4.94	4.94	0.65067	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.065200	0.07235	N	0.863320	T	0.42040	0.1185	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.08289	-1.0729	10	0.59425	D	0.04	.	17.1632	0.86809	0.0:1.0:0.0:0.0	.	391	Q9Y2K6	UBP20_HUMAN	C	391	ENSP00000361506:R391C;ENSP00000313811:R391C;ENSP00000351122:R391C	ENSP00000313811:R391C	R	+	1	0	USP20	131670997	0.989000	0.36119	0.984000	0.44739	0.904000	0.53231	3.537000	0.53590	2.287000	0.76781	0.561000	0.74099	CGC	USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132631176	+1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	T
USP4	7375	genome.wustl.edu	37	3	49372952	49372952	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:49372952C>T	ENST00000265560.4	-	2	225	c.179G>A	c.(178-180)gGt>gAt	p.G60D	USP4_ENST00000415188.1_Missense_Mutation_p.G60D|USP4_ENST00000351842.4_Missense_Mutation_p.G60D|USP4_ENST00000416417.1_Missense_Mutation_p.G60D	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	60	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTTATGTTCACCCACATTGTA	0.438																																																	0													140.0	122.0	128.0					3																	49372952		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.179G>A	3.37:g.49372952C>T	ENSP00000265560:p.Gly60Asp		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.G60D	ENST00000265560.4	37	c.179	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755984	0.49362	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.33216	1.94;2.06;1.42	5.01	5.01	0.66863	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.	.	.	.	T	0.52581	0.1743	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.54309	-0.8313	9	0.72032	D	0.01	-16.2065	16.1677	0.81782	0.0:1.0:0.0:0.0	.	60;60	Q13107-2;Q13107	.;UBP4_HUMAN	D	60	ENSP00000341028:G60D;ENSP00000265560:G60D;ENSP00000400623:G60D	ENSP00000265560:G60D	G	-	2	0	USP4	49347956	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	5.612000	0.67681	2.481000	0.83766	0.462000	0.41574	GGT	USP4	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	C	NM_199443		49372952	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	T
USP7	7874	genome.wustl.edu	37	16	9002295	9002295	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:9002295C>T	ENST00000344836.4	-	12	1372	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	USP7_ENST00000535863.1_Missense_Mutation_p.G293S|USP7_ENST00000381886.4_Missense_Mutation_p.G376S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	392	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AATTTCACACCTTTCTCTGCT	0.388																																																	0													156.0	139.0	145.0					16																	9002295		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1174G>A	16.37:g.9002295C>T	ENSP00000343535:p.Gly392Ser		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.G392S	ENST00000344836.4	37	c.1174	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.700880	0.96812	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.28666	1.6;1.6;1.6	5.85	5.85	0.93711	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56384	-0.7988	10	0.66056	D	0.02	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	392;376	Q93009;B7Z815	UBP7_HUMAN;.	S	392;400;293;293;334	ENSP00000343535:G392S;ENSP00000443646:G293S;ENSP00000439272:G334S	ENSP00000343535:G392S	G	-	1	0	USP7	8909796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.767000	0.95098	0.655000	0.94253	GGT	USP7	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			9002295	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	T
UXT	8409	genome.wustl.edu	37	X	47516583	47516583	+	Splice_Site	SNP	C	C	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47516583C>A	ENST00000333119.3	-	5	410	c.355G>T	c.(355-357)Gag>Tag	p.E119*	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'UTR|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_Splice_Site_p.E131*	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	119					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGGACTTACTCTGTGAGGAGA	0.453																																																	0													55.0	44.0	48.0					X																	47516583		2203	4299	6502	SO:0001630	splice_region_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.356+1G>T	X.37:g.47516583C>A			B2R561|Q5JZG3|Q9Y6E5	Nonsense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.E131*	ENST00000333119.3	37	c.391	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.147427	0.94603	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	.	.	.	5.57	2.63	0.31362	.	0.500235	0.18593	N	0.136690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-8.9474	2.5742	0.04802	0.1953:0.5154:0.1852:0.104	.	.	.	.	X	119;131	.	ENSP00000327797:E119X	E	-	1	0	UXT	47401527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.093000	0.30939	1.205000	0.43262	0.594000	0.82650	GAG	UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin		0.453	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477	Nonsense_Mutation	47516583	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	nonsense	SNP	0.999	A
UXT	8409	genome.wustl.edu	37	X	47516607	47516607	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47516607C>G	ENST00000333119.3	-	5	386	c.331G>C	c.(331-333)Gat>Cat	p.D111H	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'UTR|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_Missense_Mutation_p.D123H	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	111					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CTCTTACGATCAATGAACTTG	0.468																																																	0													64.0	50.0	54.0					X																	47516607		2203	4300	6503	SO:0001583	missense	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.331G>C	X.37:g.47516607C>G	ENSP00000327797:p.Asp111His		B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.D123H	ENST00000333119.3	37	c.367	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640219	0.47153	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.51325	0.71;0.71	5.87	5.87	0.94306	Prefoldin (1);Prefoldin subunit (1);	0.057266	0.64402	D	0.000002	T	0.47116	0.1428	L	0.57536	1.79	0.42359	D	0.992404	B	0.16166	0.016	B	0.17722	0.019	T	0.43877	-0.9364	10	0.62326	D	0.03	-13.0639	14.3675	0.66815	0.0:1.0:0.0:0.0	.	111	Q9UBK9	UXT_HUMAN	H	111;123	ENSP00000327797:D111H;ENSP00000337393:D123H	ENSP00000327797:D111H	D	-	1	0	UXT	47401551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.847000	0.62867	2.469000	0.83416	0.594000	0.82650	GAT	UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT		0.468	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	C	NM_153477		47516607	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	missense	SNP	1.000	G
VASP	7408	genome.wustl.edu	37	19	46026015	46026015	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:46026015G>A	ENST00000245932.6	+	7	1116	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	254	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCCCAAAGCTGAGAGTGGTCG	0.617																																																	0													31.0	36.0	35.0					19																	46026015		2203	4300	6503	SO:0001583	missense	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.760G>A	19.37:g.46026015G>A	ENSP00000245932:p.Glu254Lys		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pirsf_Vasodilator_phosphoprotein,pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.E254K	ENST00000245932.6	37	c.760	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092873	0.56075	.	.	ENSG00000125753	ENST00000245932	T	0.70045	-0.45	3.92	3.92	0.45320	.	0.410430	0.23151	N	0.051342	T	0.60894	0.2304	L	0.54323	1.7	0.36665	D	0.878144	B	0.23058	0.079	B	0.18871	0.023	T	0.66376	-0.5939	10	0.44086	T	0.13	-7.8303	13.4764	0.61312	0.0:0.0:1.0:0.0	.	254	P50552	VASP_HUMAN	K	254	ENSP00000245932:E254K	ENSP00000245932:E254K	E	+	1	0	VASP	50717855	1.000000	0.71417	0.985000	0.45067	0.282000	0.26991	5.679000	0.68160	2.020000	0.59435	0.462000	0.41574	GAG	VASP	-	pirsf_Vasodilator_phosphoprotein		0.617	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	G			46026015	+1	no_errors	ENST00000245932	ensembl	human	known	70_37	missense	SNP	0.998	A
VEZT	55591	genome.wustl.edu	37	12	95676223	95676223	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr12:95676223G>A	ENST00000436874.1	+	8	1236	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.V329V	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	377					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TATCTGATGTGACTCAAGGTC	0.473																																																	0													178.0	169.0	172.0					12																	95676223		1981	4175	6156	SO:0001819	synonymous_variant	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1131G>A	12.37:g.95676223G>A			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	NULL	p.V377	ENST00000436874.1	37	c.1131	CCDS44954.1	12																																																																																			VEZT	-	NULL		0.473	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95676223	+1	no_errors	ENST00000436874	ensembl	human	known	70_37	silent	SNP	1.000	A
VPS45	11311	genome.wustl.edu	37	1	150082514	150082514	+	Intron	DEL	A	A	-			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr1:150082514delA	ENST00000369130.3	+	14	2039				VPS45_ENST00000535106.1_Intron|VPS45_ENST00000369128.5_Intron|VPS45_ENST00000484306.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTCCACCAAAAAAAAAAG	0.303																																																	0																																										SO:0001627	intron_variant	11311			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1494-97A>-	1.37:g.150082514delA			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	RNA	DEL	-	NULL	ENST00000369130.3	37	NULL	CCDS944.1	1																																																																																			VPS45	-	-		0.303	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	A	NM_007259		150082514	+1	no_errors	ENST00000484306	ensembl	human	known	70_37	rna	DEL	0.965	-
WDFY4	57705	genome.wustl.edu	37	10	49939277	49939277	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr10:49939277C>G	ENST00000325239.5	+	8	1279	c.1252C>G	c.(1252-1254)Cga>Gga	p.R418G	WDFY4_ENST00000413659.2_Missense_Mutation_p.R418G|WDFY4_ENST00000360890.2_Missense_Mutation_p.R418G	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	418						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTGGAATGCTCGAAACTTCTT	0.542																																																	0													104.0	93.0	96.0					10																	49939277		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1252C>G	10.37:g.49939277C>G	ENSP00000320563:p.Arg418Gly		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R418G	ENST00000325239.5	37	c.1252	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512222	0.44660	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.45668	0.89;3.62;3.62	5.58	4.61	0.57282	.	.	.	.	.	T	0.43411	0.1246	M	0.63428	1.95	0.09310	N	1	P;P	0.51537	0.713;0.946	B;P	0.46452	0.155;0.517	T	0.38415	-0.9662	9	0.40728	T	0.16	.	7.485	0.27427	0.2225:0.6155:0.162:0.0	.	418;418	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	G	418;427;418;418;418	ENSP00000354141:R418G;ENSP00000320563:R418G;ENSP00000403789:R418G	ENSP00000320563:R418G	R	+	1	2	WDFY4	49609283	0.095000	0.21747	0.934000	0.37439	0.996000	0.88848	1.036000	0.30228	2.641000	0.89580	0.563000	0.77884	CGA	WDFY4	-	superfamily_ARM-type_fold		0.542	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		49939277	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	0.105	G
WDR72	256764	genome.wustl.edu	37	15	54003550	54003550	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr15:54003550G>A	ENST00000396328.1	-	8	1079	c.840C>T	c.(838-840)atC>atT	p.I280I	WDR72_ENST00000559418.1_Silent_p.I280I|WDR72_ENST00000557913.1_Silent_p.I279I|WDR72_ENST00000360509.5_Silent_p.I280I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	280										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCAGCTGATAGATGTAACTGT	0.448																																																	0													117.0	108.0	111.0					15																	54003550		2194	4293	6487	SO:0001819	synonymous_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.840C>T	15.37:g.54003550G>A			Q7Z3I3|Q8N8X2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I280	ENST00000396328.1	37	c.840	CCDS10151.1	15																																																																																			WDR72	-	superfamily_WD40_repeat_dom		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	G	NM_182758		54003550	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1634415	1634415	+	Silent	SNP	G	G	A	rs377573673		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:1634415G>A	ENST00000409644.1	+	4	4020	c.4020G>A	c.(4018-4020)gcG>gcA	p.A1340A	WDR81_ENST00000419248.1_Silent_p.A113A|WDR81_ENST00000437219.2_Silent_p.A137A|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000309182.5_Silent_p.A289A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1340					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTAAGGAGGCGGGGCTGCTGG	0.657																																																	0								G	,,,	0,4406		0,0,2203	40.0	36.0	37.0		411,4020,339,867	-11.6	0.2	17		37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	137/739,1340/1942,113/715,289/891	1634415	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4020G>A	17.37:g.1634415G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1340	ENST00000409644.1	37	c.4020	CCDS54062.1	17																																																																																			WDR81	-	NULL		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1634415	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	0.045	A
WSCD1	23302	genome.wustl.edu	37	17	6014195	6014195	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr17:6014195G>A	ENST00000574946.1	+	7	1504	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	WSCD1_ENST00000317744.5_Missense_Mutation_p.E372K|WSCD1_ENST00000573634.1_Missense_Mutation_p.E256K|WSCD1_ENST00000539421.1_Missense_Mutation_p.E372K|WSCD1_ENST00000574232.1_Missense_Mutation_p.E372K			Q658N2	WSCD1_HUMAN	WSC domain containing 1	372						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCACCTCATTGAGCATGCCAC	0.517																																																	0													134.0	123.0	127.0					17																	6014195		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1114G>A	17.37:g.6014195G>A	ENSP00000460825:p.Glu372Lys		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.E372K	ENST00000574946.1	37	c.1114	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.112306	0.94339	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.41065	1.01;1.01	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.70241	-0.4926	10	0.49607	T	0.09	-33.8344	16.3924	0.83544	0.0:0.0:1.0:0.0	.	372	Q658N2	WSCD1_HUMAN	K	372	ENSP00000323087:E372K;ENSP00000446032:E372K	ENSP00000323087:E372K	E	+	1	0	WSCD1	5954919	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	9.464000	0.97655	2.444000	0.82710	0.650000	0.86243	GAG	WSCD1	-	NULL		0.517	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	G	NM_015253		6014195	+1	no_errors	ENST00000317744	ensembl	human	known	70_37	missense	SNP	1.000	A
XCR1	2829	genome.wustl.edu	37	3	46063416	46063416	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr3:46063416C>G	ENST00000309285.3	-	2	380	c.24G>C	c.(22-24)gaG>gaC	p.E8D	XCR1_ENST00000542109.1_Missense_Mutation_p.E8D	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	8					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTGGTGCTCTCTGGGTTGC	0.527																																																	0													59.0	64.0	62.0					3																	46063416		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.24G>C	3.37:g.46063416C>G	ENSP00000310405:p.Glu8Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.E8D	ENST00000309285.3	37	c.24	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317905	0.23994	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67865	-0.29;-0.29	3.92	0.747	0.18371	.	2.443350	0.01375	N	0.012709	T	0.43567	0.1253	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.32877	-0.9890	10	0.12766	T	0.61	.	5.0596	0.14550	0.3847:0.3959:0.2194:0.0	.	8	P46094	XCR1_HUMAN	D	8	ENSP00000310405:E8D;ENSP00000438119:E8D	ENSP00000310405:E8D	E	-	3	2	XCR1	46038420	0.000000	0.05858	0.034000	0.17996	0.009000	0.06853	-0.711000	0.05019	0.601000	0.29879	0.650000	0.86243	GAG	XCR1	-	NULL		0.527	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063416	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	G
XPNPEP3	63929	genome.wustl.edu	37	22	41318403	41318403	+	Silent	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr22:41318403C>G	ENST00000357137.4	+	8	1206	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	XPNPEP3_ENST00000544094.1_Silent_p.L351L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	374					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GTTTGGCCCTCTGCTTCCCTG	0.478																																					Ovarian(145;306 1841 7037 21878 30110)												0													206.0	197.0	200.0					22																	41318403		2203	4300	6503	SO:0001819	synonymous_variant	63929				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1122C>G	22.37:g.41318403C>G			B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.L374	ENST00000357137.4	37	c.1122	CCDS14007.1	22																																																																																			XPNPEP3	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.478	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	C	NM_022098		41318403	+1	no_errors	ENST00000357137	ensembl	human	known	70_37	silent	SNP	0.965	G
XPO7	23039	genome.wustl.edu	37	8	21824455	21824455	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr8:21824455G>C	ENST00000252512.9	+	2	206	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q	XPO7_ENST00000434536.1_Missense_Mutation_p.E36Q|XPO7_ENST00000433566.4_Missense_Mutation_p.E37Q|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	36	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCCTTGGTTGAATTTACCAA	0.483																																																	0													94.0	96.0	95.0					8																	21824455		2119	4265	6384	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.106G>C	8.37:g.21824455G>C	ENSP00000252512:p.Glu36Gln		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E36Q	ENST00000252512.9	37	c.106	CCDS47818.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156090|3.156090	0.57259|0.57259	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566|ENST00000521303	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58004|0.58004	0.2092|0.2092	N|N	0.26130|0.26130	0.795|0.795	0.80722|0.80722	D|D	1|1	P;B;P|.	0.42203|.	0.706;0.227;0.773|.	P;B;P|.	0.46940|.	0.464;0.18;0.532|.	T|T	0.50294|0.50294	-0.8845|-0.8845	10|5	0.14656|.	T|.	0.56|.	-14.2247|-14.2247	19.7463|19.7463	0.96253|0.96253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	37;36;36|.	E7ESC6;E9PEN8;Q9UIA9|.	.;.;XPO7_HUMAN|.	Q|F	36;36;37|40	ENSP00000404853:E36Q;ENSP00000252512:E36Q;ENSP00000410249:E37Q|.	ENSP00000252512:E36Q|.	E|L	+|+	1|3	0|2	XPO7|XPO7	21880401|21880401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.802000|9.802000	0.99131|0.99131	2.771000|2.771000	0.95319|0.95319	0.655000|0.655000	0.94253|0.94253	GAA|TTG	XPO7	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N		0.483	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	G	NM_015024		21824455	+1	no_errors	ENST00000434536	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB22	9278	genome.wustl.edu	37	6	33284082	33284082	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:33284082G>A	ENST00000431845.2	-	2	763	c.612C>T	c.(610-612)agC>agT	p.S204S	TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.S204S|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	204					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTTGCTGCTGCTGGGAGATT	0.627																																																	0													33.0	39.0	37.0					6																	33284082		2203	4300	6503	SO:0001819	synonymous_variant	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.612C>T	6.37:g.33284082G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S204	ENST00000431845.2	37	c.612	CCDS4775.1	6																																																																																			ZBTB22	-	NULL		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	G			33284082	-1	no_errors	ENST00000418724	ensembl	human	known	70_37	silent	SNP	1.000	A
ZDHHC20	253832	genome.wustl.edu	37	13	21950739	21950739	+	3'UTR	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:21950739G>A	ENST00000400590.3	-	0	1392				ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20-IT1_ENST00000417513.1_RNA|ZDHHC20_ENST00000542645.1_3'UTR|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_3'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20						protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TCATTCCACTGATCATTTTCT	0.299																																																	0													26.0	23.0	24.0					13																	21950739		1302	2929	4231	SO:0001624	3_prime_UTR_variant	253832			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.*96C>T	13.37:g.21950739G>A			A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	RNA	SNP	-	NULL	ENST00000400590.3	37	NULL		13																																																																																			ZDHHC20	-	-		0.299	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	G	NM_153251		21950739	-1	no_errors	ENST00000464055	ensembl	human	known	70_37	rna	SNP	0.888	A
ZC3H13	23091	genome.wustl.edu	37	13	46539507	46539507	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr13:46539507C>T	ENST00000242848.4	-	16	4727	c.4379G>A	c.(4378-4380)gGa>gAa	p.G1460E	ZC3H13_ENST00000378921.2_Missense_Mutation_p.G416E|ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1461E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1460							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGGCTCGTATCCTTCTCCAGC	0.423																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													276.0	247.0	257.0					13																	46539507		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4379G>A	13.37:g.46539507C>T	ENSP00000242848:p.Gly1460Glu		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G1460E	ENST00000242848.4	37	c.4379		13	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372359	0.61624	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.37752	2.78;1.18;1.81	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000092	T	0.23965	0.0580	L	0.28274	0.84	0.40918	D	0.984283	B;B;B	0.24186	0.06;0.099;0.004	B;B;B	0.26416	0.031;0.069;0.009	T	0.09907	-1.0653	10	0.11182	T	0.66	.	10.713	0.45995	0.0:0.9139:0.0:0.0861	.	1460;1461;45	Q5T200;Q5T200-2;B3KMG8	ZC3HD_HUMAN;.;.	E	1460;416;1461	ENSP00000242848:G1460E;ENSP00000368201:G416E;ENSP00000282007:G1461E	ENSP00000242848:G1460E	G	-	2	0	ZC3H13	45437508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.430000	0.44766	2.675000	0.91044	0.655000	0.94253	GGA	ZC3H13	-	NULL		0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	C	NM_015070		46539507	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFP36L1	677	genome.wustl.edu	37	14	69259641	69259641	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr14:69259641G>A	ENST00000439696.2	-	1	316	c.15C>T	c.(13-15)ctC>ctT	p.L5L	ZFP36L1_ENST00000336440.3_Silent_p.L5L|ZFP36L1_ENST00000555997.1_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	5					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCAGACACGAGGGTGGTGG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											133.0	132.0	133.0					14																	69259641		2203	4300	6503	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.15C>T	14.37:g.69259641G>A			Q13851	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.L5	ENST00000439696.2	37	c.15	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Tis11B_N		0.557	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	G			69259641	-1	no_errors	ENST00000336440	ensembl	human	known	70_37	silent	SNP	1.000	A
ZMYM3	9203	genome.wustl.edu	37	X	70472920	70472920	+	Silent	SNP	G	G	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:70472920G>T	ENST00000353904.2	-	2	373	c.186C>A	c.(184-186)acC>acA	p.T62T	ZMYM3_ENST00000373981.1_Silent_p.T62T|ZMYM3_ENST00000373978.1_Silent_p.T62T|ZMYM3_ENST00000373982.1_Silent_p.T62T|ZMYM3_ENST00000373988.1_Silent_p.T62T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.T62T|ZMYM3_ENST00000373984.3_Silent_p.T62T|ZMYM3_ENST00000373998.1_Silent_p.T62T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	62					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGCCAGCAGGGGTATCAAGCA	0.627											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13.0	15.0	14.0					X																	70472920		2194	4280	6474	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.186C>A	X.37:g.70472920G>T		1122	D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.T62	ENST00000353904.2	37	c.186	CCDS14409.1	X																																																																																			ZMYM3	-	NULL		0.627	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70472920	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	silent	SNP	0.987	T
ZMYND8	23613	genome.wustl.edu	37	20	45923508	45923508	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:45923508C>G	ENST00000311275.7	-	5	662	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZMYND8_ENST00000360911.3_Missense_Mutation_p.E132Q|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E157Q|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E157Q|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E137Q|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E132Q|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E132Q|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E157Q|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E132Q|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E164Q|ZMYND8_ENST00000446994.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	137					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.E157K(1)|p.E157Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGATGCATTCTGCTACTGTA	0.383																																																	2	Substitution - Missense(2)	urinary_tract(2)											245.0	221.0	229.0					20																	45923508		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.409G>C	20.37:g.45923508C>G	ENSP00000312237:p.Glu137Gln		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,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.E164Q	ENST00000311275.7	37	c.490		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.299412|5.299412	0.95574|0.95574	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95918|.	-2.01;-1.86;-1.99;-1.88;-1.86;-1.88;-1.99;-1.87;-1.86;-1.89;-2.01;-1.93;-3.85|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Bromodomain (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70675|0.70675	0.3251|0.3251	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.911;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.999;0.803;0.997;0.999;0.999|.	T|T	0.63620|0.63620	-0.6596|-0.6596	10|5	0.87932|.	D|.	0|.	-9.3586|-9.3586	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;164;132;132;157;137;132;157;157;137;132;132;157;132;137|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.|.	Q|T	132;137;132;137;157;157;137;164;137;157;132;132;112|63	ENSP00000354166:E132Q;ENSP00000312237:E137Q;ENSP00000392964:E132Q;ENSP00000262975:E137Q;ENSP00000420095:E157Q;ENSP00000335537:E157Q;ENSP00000379577:E137Q;ENSP00000439800:E164Q;ENSP00000348246:E137Q;ENSP00000418210:E157Q;ENSP00000361093:E132Q;ENSP00000443086:E132Q;ENSP00000413727:E112Q|.	ENSP00000262975:E137Q|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45356915|45356915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|AGA	ZMYND8	-	superfamily_Bromodomain,superfamily_Znf_FYVE_PHD		0.383	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45923508	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF217	7764	genome.wustl.edu	37	20	52193406	52193406	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr20:52193406C>T	ENST00000371471.2	-	4	2322	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.E633K			O75362	ZN217_HUMAN	zinc finger protein 217	633					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCTGAGTTTCAACTGCTGAT	0.443																																																	0													165.0	163.0	164.0					20																	52193406		2203	4300	6503	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1897G>A	20.37:g.52193406C>T	ENSP00000360526:p.Glu633Lys		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E633K	ENST00000371471.2	37	c.1897	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814136	0.70912	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10573	2.86;2.86	5.25	5.25	0.73442	.	0.755938	0.12485	N	0.464765	T	0.13543	0.0328	L	0.36672	1.1	0.35177	D	0.772117	P	0.52316	0.952	P	0.47075	0.536	T	0.14980	-1.0453	10	0.24483	T	0.36	-19.507	13.7569	0.62942	0.1538:0.8462:0.0:0.0	.	633	O75362	ZN217_HUMAN	K	633	ENSP00000360526:E633K;ENSP00000304308:E633K	ENSP00000304308:E633K	E	-	1	0	ZNF217	51626813	0.843000	0.29541	0.215000	0.23724	0.029000	0.11900	1.788000	0.38714	2.610000	0.88304	0.555000	0.69702	GAA	ZNF217	-	NULL		0.443	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	C	NM_006526		52193406	-1	no_errors	ENST00000302342	ensembl	human	known	70_37	missense	SNP	0.703	T
ZNF254	9534	genome.wustl.edu	37	19	24289360	24289360	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:24289360C>T	ENST00000357002.4	+	3	283	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ZNF254_ENST00000339642.6_Silent_p.V56V|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GTATTGCTGTCTCTAAGCCAG	0.398																																																	0													102.0	115.0	110.0					19																	24289360		1511	2709	4220	SO:0001819	synonymous_variant	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.168C>T	19.37:g.24289360C>T			A4QPC0|Q86XL7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V56	ENST00000357002.4	37	c.168	CCDS32983.1	19																																																																																			ZNF254	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	C	NM_004876		24289360	+1	no_errors	ENST00000357002	ensembl	human	known	70_37	silent	SNP	0.233	T
ZNF391	346157	genome.wustl.edu	37	6	27368923	27368923	+	Missense_Mutation	SNP	C	C	A	rs141338474		TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr6:27368923C>A	ENST00000244576.4	+	3	1319	c.774C>A	c.(772-774)ttC>ttA	p.F258L	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F258F(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAAAAGCTTTCAGTTGGATCT	0.458																																																	1	Substitution - coding silent(1)	skin(1)											64.0	70.0	68.0					6																	27368923		2200	4299	6499	SO:0001583	missense	346157			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.774C>A	6.37:g.27368923C>A	ENSP00000244576:p.Phe258Leu		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F258L	ENST00000244576.4	37	c.774	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217168	0.39201	.	.	ENSG00000124613	ENST00000244576	T	0.46063	0.88	4.0	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50429	0.1615	M	0.93062	3.375	0.21355	N	0.999718	D	0.55385	0.971	P	0.56278	0.795	T	0.41502	-0.9505	9	0.87932	D	0	.	8.3031	0.32025	0.0:0.7469:0.0:0.2531	.	258	Q9UJN7	ZN391_HUMAN	L	258	ENSP00000244576:F258L	ENSP00000244576:F258L	F	+	3	2	ZNF391	27476902	0.004000	0.15560	0.902000	0.35471	0.947000	0.59692	0.018000	0.13422	0.649000	0.30751	0.557000	0.71058	TTC	ZNF391	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	C	NM_001076781		27368923	+1	no_errors	ENST00000244576	ensembl	human	known	70_37	missense	SNP	0.110	A
ZNF468	90333	genome.wustl.edu	37	19	53344689	53344689	+	Silent	SNP	G	G	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:53344689G>C	ENST00000595646.1	-	4	978	c.858C>G	c.(856-858)ctC>ctG	p.L286L	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF468_ENST00000396409.4_Silent_p.L233L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	286					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(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTGAATGAAGAGGGATGAAT	0.418																																																	0													121.0	115.0	117.0					19																	53344689		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.858C>G	19.37:g.53344689G>C			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L286	ENST00000595646.1	37	c.858	CCDS33094.1	19																																																																																			ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344689	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	silent	SNP	0.002	C
ZNF582	147948	genome.wustl.edu	37	19	56895976	56895976	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:56895976C>G	ENST00000301310.4	-	5	968	c.810G>C	c.(808-810)ttG>ttC	p.L270F	ZNF582_ENST00000586929.1_Missense_Mutation_p.L270F|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATGTTCAATCAACTGTGAGC	0.398																																					Ovarian(183;1887 2032 4349 30507 51343)												0													69.0	59.0	62.0					19																	56895976		2203	4300	6503	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.810G>C	19.37:g.56895976C>G	ENSP00000301310:p.Leu270Phe		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L270F	ENST00000301310.4	37	c.810	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685518	0.47991	.	.	ENSG00000018869	ENST00000301310	T	0.15603	2.41	5.18	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28940	N	0.013644	T	0.30039	0.0752	M	0.78344	2.41	0.09310	N	1	D;B	0.63046	0.992;0.4	P;B	0.52066	0.689;0.069	T	0.41752	-0.9491	10	0.52906	T	0.07	.	15.5635	0.76269	0.7922:0.2078:0.0:0.0	.	270;301	Q96NG8;B4DQZ9	ZN582_HUMAN;.	F	270	ENSP00000301310:L270F	ENSP00000301310:L270F	L	-	3	2	ZNF582	61587788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.599000	0.00419	0.006000	0.14734	-0.181000	0.13052	TTG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56895976	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF618	114991	genome.wustl.edu	37	9	116812420	116812420	+	Silent	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr9:116812420C>T	ENST00000374126.5	+	15	2937	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	ZNF618_ENST00000288466.7_Silent_p.L853L|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	946					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(4)|lung(10)|urinary_tract(1)	16						TGAATAAACTCATGTTTCTGA	0.423																																																	0													70.0	76.0	74.0					9																	116812420		1863	4099	5962	SO:0001819	synonymous_variant	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2838C>T	9.37:g.116812420C>T			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L946	ENST00000374126.5	37	c.2838		9																																																																																			ZNF618	-	superfamily_RNaseH-like_dom		0.423	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	C	XM_054983		116812420	+1	no_errors	ENST00000374126	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF630	57232	genome.wustl.edu	37	X	47918822	47918822	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chrX:47918822G>A	ENST00000409324.3	-	5	1235	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y	ZNF630_ENST00000442455.3_Missense_Mutation_p.H323Y|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.H213Y	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ACTCTCTGATGAACAGTGAAA	0.423																																																	0													61.0	56.0	57.0					X																	47918822		2193	4288	6481	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1009C>T	X.37:g.47918822G>A	ENSP00000386393:p.His337Tyr		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H337Y	ENST00000409324.3	37	c.1009	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	17.98	3.521131	0.64747	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	D;D;D	0.86769	-2.17;-2.17;-2.17	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94863	0.8340	H	0.96547	3.84	0.29669	N	0.842588	D	0.89917	1.0	D	0.91635	0.999	D	0.89137	0.3514	9	0.87932	D	0	.	9.8164	0.40856	0.0:0.0:1.0:0.0	.	337	Q2M218	ZN630_HUMAN	Y	323;213;337	ENSP00000393163:H323Y;ENSP00000354683:H213Y;ENSP00000386393:H337Y	ENSP00000354683:H213Y	H	-	1	0	ZNF630	47803766	1.000000	0.71417	0.827000	0.32855	0.928000	0.56348	6.402000	0.73260	1.179000	0.42884	0.544000	0.68410	CAT	ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	G	NM_001037735		47918822	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.997	A
ZNF708	7562	genome.wustl.edu	37	19	21477341	21477341	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:21477341C>G	ENST00000356929.3	-	4	624	c.427G>C	c.(427-429)Gac>Cac	p.D143H		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	79					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)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACGTATTTGTCACACTGAACT	0.373																																																	0													153.0	138.0	143.0					19																	21477341		2203	4300	6503	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.427G>C	19.37:g.21477341C>G	ENSP00000349401:p.Asp143His		Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D143H	ENST00000356929.3	37	c.427	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	1.324	-0.598582	0.03744	.	.	ENSG00000182141	ENST00000356929	T	0.35605	1.3	1.07	-2.14	0.07123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33440	0.0863	M	0.76838	2.35	0.09310	N	1	B	0.19583	0.037	B	0.20384	0.029	T	0.41627	-0.9498	9	0.52906	T	0.07	.	3.4281	0.07418	0.0:0.2135:0.2262:0.5602	.	143	P17019	ZN708_HUMAN	H	143	ENSP00000349401:D143H	ENSP00000349401:D143H	D	-	1	0	ZNF708	21269181	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.231000	0.01206	-0.366000	0.08064	-0.362000	0.07510	GAC	ZNF708	-	pfscan_Znf_C2H2		0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	C	NM_021269		21477341	-1	no_errors	ENST00000356929	ensembl	human	known	70_37	missense	SNP	0.008	G
ZNF726	730087	genome.wustl.edu	37	19	24116063	24116063	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:24116063C>T	ENST00000594466.1	+	4	1250	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	ZNF726_ENST00000334589.5_Intron|ZNF726_ENST00000575986.1_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000322487.7_Missense_Mutation_p.S382L	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATATGGCCCTCAACCCTAACT	0.388																																																	0																																										SO:0001583	missense	730087			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.1145C>T	19.37:g.24116063C>T	ENSP00000471516:p.Ser382Leu		M0R0X8|Q86Y87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S382L	ENST00000594466.1	37	c.1145	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	c	1.055	-0.674671	0.03378	.	.	ENSG00000213967	ENST00000322487	T	0.01705	4.68	0.814	-1.63	0.08345	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46596	-0.9180	6	0.66056	D	0.02	.	2.2168	0.03962	0.3219:0.3547:0.3234:0.0	.	.	.	.	L	382	ENSP00000317125:S382L	ENSP00000317125:S382L	S	+	2	0	ZNF726	23907903	0.000000	0.05858	0.247000	0.24249	0.248000	0.25809	-2.739000	0.00800	0.183000	0.20059	0.186000	0.17326	TCA	ZNF726	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	C	XM_001715134		24116063	+1	no_errors	ENST00000322487	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF768	79724	genome.wustl.edu	37	16	30537365	30537365	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:30537365C>T	ENST00000380412.5	-	2	271	c.96G>A	c.(94-96)atG>atA	p.M32I	ZNF768_ENST00000562803.1_Start_Codon_SNP_p.M1I|ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	32					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CATTCTCACTCATGTTGCCTG	0.512																																																	0													102.0	101.0	101.0					16																	30537365		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.96G>A	16.37:g.30537365C>T	ENSP00000369777:p.Met32Ile		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M32I	ENST00000380412.5	37	c.96	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399809	0.25291	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06142	3.34	4.91	1.61	0.23674	.	1.049910	0.07502	N	0.907389	T	0.04272	0.0118	N	0.14661	0.345	0.50813	D	0.999898	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	10	0.34782	T	0.22	0.2958	5.9173	0.19061	0.0:0.6464:0.153:0.2006	.	32	Q9H5H4	ZN768_HUMAN	I	32;1	ENSP00000369777:M32I	ENSP00000369777:M32I	M	-	3	0	ZNF768	30444866	0.169000	0.23002	0.886000	0.34754	0.967000	0.64934	0.096000	0.15147	0.164000	0.19529	0.561000	0.74099	ATG	ZNF768	-	NULL		0.512	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	C	NM_024671		30537365	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	0.721	T
ZNF768	79724	genome.wustl.edu	37	16	30537662	30537662	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:30537662C>T	ENST00000380412.5	-	1	248	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	25					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGTACCCTTCGGGGCTCCTC	0.711																																																	0													34.0	36.0	35.0					16																	30537662		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.73G>A	16.37:g.30537662C>T	ENSP00000369777:p.Glu25Lys		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E25K	ENST00000380412.5	37	c.73	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700785	0.30142	.	.	ENSG00000169957	ENST00000380412	T	0.07114	3.22	5.05	2.95	0.34219	.	0.154985	0.30401	N	0.009711	T	0.04137	0.0115	N	0.19112	0.55	0.38465	D	0.947324	B	0.28258	0.205	B	0.16289	0.015	T	0.39542	-0.9609	10	0.10377	T	0.69	-2.9734	8.1392	0.31073	0.0:0.603:0.3062:0.0908	.	25	Q9H5H4	ZN768_HUMAN	K	25	ENSP00000369777:E25K	ENSP00000369777:E25K	E	-	1	0	ZNF768	30445163	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.150000	0.16263	1.353000	0.45828	0.561000	0.74099	GAA	ZNF768	-	NULL		0.711	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	C	NM_024671		30537662	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	0.489	T
ZNF778	197320	genome.wustl.edu	37	16	89294284	89294284	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr16:89294284G>A	ENST00000433976.2	+	6	1836	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E460K	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACACCGGGGAGAAGCCCTA	0.488																																																	0													70.0	77.0	75.0					16																	89294284		2194	4300	6494	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1504G>A	16.37:g.89294284G>A	ENSP00000405289:p.Glu502Lys		Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E502K	ENST00000433976.2	37	c.1504	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529218	0.85706	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.24350	1.86;1.86	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	M	0.62154	1.92	0.28593	N	0.909555	D;D	0.69078	0.996;0.997	D;D	0.69824	0.918;0.966	T	0.20773	-1.0265	9	0.72032	D	0.01	.	8.1571	0.31176	0.0:0.0:1.0:0.0	.	460;502	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	K	502;460	ENSP00000405289:E502K;ENSP00000305203:E460K	ENSP00000305203:E460K	E	+	1	0	ZNF778	87821785	0.977000	0.34250	0.696000	0.30242	0.501000	0.33797	3.927000	0.56499	0.916000	0.36871	0.545000	0.68477	GAG	ZNF778	-	pfscan_Znf_C2H2		0.488	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	G	NM_182531		89294284	+1	no_errors	ENST00000433976	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF791	163049	genome.wustl.edu	37	19	12739990	12739990	+	Silent	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:12739990G>A	ENST00000343325.4	+	4	1809	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Silent_p.E440E|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Silent_p.E517E|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACAATTATGAGAAACCTCTTG	0.358																																																	0													77.0	82.0	81.0					19																	12739990		2203	4300	6503	SO:0001819	synonymous_variant	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1647G>A	19.37:g.12739990G>A			B7Z586|Q8NC99	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E549	ENST00000343325.4	37	c.1647	CCDS12273.1	19																																																																																			ZNF791	-	pfscan_Znf_C2H2		0.358	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12739990	+1	no_errors	ENST00000343325	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF836	162962	genome.wustl.edu	37	19	52659404	52659404	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr19:52659404G>A	ENST00000322146.8	-	5	2053	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZNF836_ENST00000597252.1_Missense_Mutation_p.S511L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGAGTAATGAGCCCTGTTT	0.398																																																	0													73.0	81.0	78.0					19																	52659404		2189	4296	6485	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1532C>T	19.37:g.52659404G>A	ENSP00000325038:p.Ser511Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S511L	ENST00000322146.8	37	c.1532	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251030	0.22880	.	.	ENSG00000196267	ENST00000322146	T	0.15834	2.39	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	M	0.80508	2.5	0.09310	N	1	P	0.36048	0.534	B	0.32864	0.154	T	0.13442	-1.0509	9	0.56958	D	0.05	.	11.3449	0.49554	0.0:0.0:1.0:0.0	.	511	Q6ZNA1	ZN836_HUMAN	L	511	ENSP00000325038:S511L	ENSP00000325038:S511L	S	-	2	0	ZNF836	57351216	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.153000	0.16323	1.192000	0.43071	0.484000	0.47621	TCA	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52659404	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.002	A
ZSWIM2	151112	genome.wustl.edu	37	2	187693431	187693431	+	Silent	SNP	A	A	C			TCGA-EK-A2RJ-01A-11D-A18J-09	TCGA-EK-A2RJ-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5fd8e5-83bd-4c84-b0d0-c40c4de434e1	725bd1b1-1da8-473b-87c4-43babf0dd4de	g.chr2:187693431A>C	ENST00000295131.2	-	9	1221	c.1182T>G	c.(1180-1182)acT>acG	p.T394T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	394					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATTTTTCCAAGTTAAAGGGT	0.353																																																	0													62.0	60.0	61.0					2																	187693431		2203	4298	6501	SO:0001819	synonymous_variant	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1182T>G	2.37:g.187693431A>C			B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.T394	ENST00000295131.2	37	c.1182	CCDS33348.1	2																																																																																			ZSWIM2	-	NULL		0.353	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	A	NM_182521		187693431	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	silent	SNP	0.999	C
